The evolutionary impact of childhood cancer on the human gene pool

Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541...

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Published inNature communications Vol. 15; no. 1; pp. 1881 - 15
Main Authors Stoltze, Ulrik Kristoffer, Foss-Skiftesvik, Jon, Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, Konrad J., Wadt, Karin A. W., Schmiegelow, Kjeld
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 29.02.2024
Nature Publishing Group
Nature Portfolio
Subjects
631/181/2474
631/208/2489/68
631/67/69
692/4028/67/2332
Cancer
Childhood
Children
Constraints
Empirical analysis
Gene pool
Gene sequencing
Genes
Genomics
Health risks
Humanities and Social Sciences
MSH2 protein
multidisciplinary
Natural selection
Pediatrics
Population genetics
Risk
Science
Science (multidisciplinary)
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Abstract Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ ELP1 , GPR161 , VHL and SDHA / B / C ], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2 ] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool. Pathogenic germline variants associated with childhood cancer risk could be subject to evolutionary constraints. Here, the authors analyse publicly available germline data in large cohorts and observe that paediatric cancer predisposition syndrome genes are highly constrained in the general population.
AbstractList Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ELP1, GPR161, VHL and SDHA/B/C], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool.
Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ELP1, GPR161, VHL and SDHA/B/C], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool.Pathogenic germline variants associated with childhood cancer risk could be subject to evolutionary constraints. Here, the authors analyse publicly available germline data in large cohorts and observe that paediatric cancer predisposition syndrome genes are highly constrained in the general population.
Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ ELP1 , GPR161 , VHL and SDHA / B / C ], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2 ] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool. Pathogenic germline variants associated with childhood cancer risk could be subject to evolutionary constraints. Here, the authors analyse publicly available germline data in large cohorts and observe that paediatric cancer predisposition syndrome genes are highly constrained in the general population.
Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ ELP1 , GPR161 , VHL and SDHA / B / C ], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2 ] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool.
Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ELP1, GPR161, VHL and SDHA/B/C], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool.Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ELP1, GPR161, VHL and SDHA/B/C], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool.
Abstract Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS]. We find that pediatric cancer predisposition syndrome (pCPS) genes [n = 85] are highly constrained, harboring only a quarter of the loss-of-function variants that would be expected. This strong indication of selective pressure on pCPS genes is found across multiple lines of germline genomics data from both pediatric and adult cohorts. For six genes [ELP1, GPR161, VHL and SDHA/B/C], a clear lack of mutational constraint calls the pediatric penetrance and/or severity of associated cancers into question. Conversely, out of 23 known pCPS genes associated with biallelic risk, two [9%, DIS3L2 and MSH2] show significant constraint, indicating that they may monoallelically increase childhood cancer risk. In summary, we show that population genetic data provide empirical evidence that heritable childhood cancer leads to natural selection powerful enough to have significantly impacted the present-day gene pool.
ArticleNumber 1881
Author Wadt, Karin A. W.
Schmiegelow, Kjeld
Stoltze, Ulrik Kristoffer
Foss-Skiftesvik, Jon
Karczewski, Konrad J.
Hansen, Thomas van Overeem
Rasmussen, Simon
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/38424437$$D View this record in MEDLINE/PubMed
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Cites_doi 10.1007/s00431-015-2614-5
10.1016/j.arcmed.2016.11.017
10.1038/s41467-017-00346-5
10.1002/cncr.34479
10.1016/j.ccr.2004.10.015
10.1371/journal.pgen.1005262
10.1002/ajmg.a.31116
10.1038/ng.1102
10.1007/s10689-021-00254-0
10.1038/s41591-020-1072-4
10.1038/ng.3940
10.6004/jnccn.2019.0044
10.1210/jc.2008-2504
10.1158/2159-8290.CD-20-1631
10.1001/jamaoncol.2015.5699
10.18632/oncotarget.26123
10.1056/NEJMoa1908753
10.1186/s13073-016-0389-6
10.1038/28212
10.1016/j.omtn.2017.01.005
10.1126/science.1253799
10.1002/bjs.18004016213
10.1016/j.ccr.2013.10.006
10.1002/mgg3.245
10.1038/s43018-021-00172-1
10.1038/nature25795
10.1158/0008-5472.CAN-15-0874
10.1016/S2352-4642(19)30018-5
10.1186/s40478-022-01429-1
10.1016/S1470-2045(15)00369-1
10.1038/nature12981
10.1002/ajmg.a.33407
10.1038/ng.3177
10.1016/j.cell.2018.03.039
10.1158/1078-0432.CCR-17-0547
10.1016/j.ccell.2015.01.002
10.1001/jama.2015.10080
10.1200/JCO.2008.21.2514
10.1038/ng.3466
10.1056/NEJMoa1508054
10.1038/s41574-021-00492-3
10.1007/s00439-022-02509-x
10.1016/j.ccr.2012.08.024
10.1136/jmedgenet-2017-105127
10.1038/s41586-020-2164-5
10.1200/JCO.21.02510
10.1038/s41598-021-84502-4
10.1038/nrc.2017.82
10.1093/hmg/ddw218
10.1136/jmedgenet-2016-104058
10.1016/j.ccell.2017.09.014
10.1038/nature25480
10.1073/pnas.1221099110
10.1038/s41431-021-00878-x
10.1007/s10689-023-00330-7
10.1126/science.aaw3535
10.3322/caac.21387
10.1101/mcs.a003863
10.1016/S1470-2045(18)30242-0
10.1038/nature10833
10.1056/NEJMoa1403088
10.1210/js.2019-00225
10.1038/ncomms10421
10.1038/ng.3253
10.1038/nrc3947
10.1086/319193
10.1200/JCO.2011.34.6353
10.1200/JCO.19.00577
10.1002/pbc.29859
10.1038/ng.1071
10.1136/bmj.k4372
10.1093/aje/kws237
10.1182/blood-2017-03-774653
10.1093/neuonc/noz123
10.1016/j.cell.2019.12.036
10.1038/s41588-019-0560-2
10.1098/rspb.2012.0542
10.1038/s43018-022-00474-y
10.1038/s41586-020-2308-7
10.1093/nar/gkac1010
10.5281/zenodo.10393299
10.1007/978-3-319-39708-5_1
10.1136/jmg-2022-108854
10.1371/journal.pgen.1009231
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References Rahman (CR95) 2014; 505
Amar (CR63) 2021; 17
Moriyama (CR91) 2015; 16
Cronin (CR1) 2022; 128
CR34
Huntly (CR5) 2004; 6
King (CR61) 2011; 29
Jin, Xu, An, Wang (CR22) 2016; 20
Mahamdallie (CR92) 2019; 3
Lehnertz (CR20) 2017; 130
Sovinz (CR70) 2010; 152A
Smith, Woodward, Evans (CR77) 2023; 22
Karczewski (CR36) 2020; 581
Parsons (CR83) 2016; 2
Noetzli (CR88) 2015; 47
Khandwala (CR31) 2018; 363
CR45
CR44
CR43
CR42
Sollis (CR58) 2023; 51
Rednam (CR60) 2017; 23
Oberg (CR48) 2016; 8
Byrjalsen (CR41) 2021; 20
Hoekstra (CR67) 2016; 25
Han (CR7) 2016; 7
Abramovs, Brass, Tassabehji (CR94) 2020; 52
Gadd (CR79) 2017; 49
Ma (CR9) 2013; 110
Wu (CR17) 2012; 44
Bodian, lawson (CR74) 1953; 40
Seaby (CR40) 2023; 142
CR59
CR56
CR54
Sturm (CR19) 2012; 22
Abbott, Nathanson, Nightingale, Maher, Greenstein (CR71) 2006; 140
Begemann (CR76) 2020; 38
Imamura (CR62) 2016; 175
da Silva (CR75) 2012; 279
Zhou (CR96) 2015; 48
Funato, Major, Lewis, Allis, Tabar (CR3) 2014; 346
Ciceri (CR80) 2018; 9
Kingsolver (CR29) 2001; 157
Parsons (CR46) 2016; 1200
CR68
Villani (CR35) 2023; 4
Foss-Skiftesvik (CR93) 2022; 10
Schultz (CR12) 2009; 27
Wagener (CR53) 2021; 29
Mertens, Johansson, Fioretos, Mitelman (CR13) 2015; 15
Burnichon (CR64) 2009; 94
Zhang (CR89) 2015; 47
Idowu, Idowu (CR23) 2008; 8
Darwin (CR28) 1860; 25
Sud, Kinnersley, Houlston (CR57) 2017; 17
Waszak (CR73) 2020; 580
Fagundes (CR69) 2019; 3
Vitte, Gao, Coppola, Judkins, Giovannini (CR8) 2017; 8
Myrskylä, Silventoinen, Tynelius, Rasmussen (CR30) 2013; 177
Waszak (CR32) 2018; 19
Ma (CR2) 2018; 555
Fiala (CR50) 2021; 2
Hol (CR82) 2022; 40
Satterstrom (CR38) 2020; 180
Huang (CR55) 2018; 173
Wong (CR49) 2020; 26
CR85
Gupta (CR84) 2019; 17
Siegel, Miller, Jemal (CR27) 2017; 67
Versteege (CR21) 1998; 394
Schwartzentruber (CR16) 2012; 482
Nouhravesh (CR37) 2016; 4
Mody (CR47) 2015; 314
Sweet-Cordero, Biegel (CR15) 2019; 363
Bender (CR18) 2013; 24
Ng (CR6) 2015; 75
CR97
Schüz, Erdmann (CR24) 2016; 47
Ostrom (CR26) 2019; 21
Astuti (CR78) 2012; 44
Wegert (CR81) 2015; 27
Gröbner (CR10) 2018; 555
Zhang (CR33) 2015; 373
Dupain, Harttrampf, Urbinati, Geoerger, Massaad-Massade (CR11) 2017; 6
von Stedingk (CR52) 2021; 11
Andrews (CR66) 2018; 55
Roberts (CR14) 2014; 371
Pathania (CR4) 2017; 32
Newman (CR51) 2021; 11
Greenberg (CR65) 2020; 22
Stanley (CR39) 2020; 383
CR25
Binderup, Jensen, Budtz-Jørgensen, Bisgaard (CR72) 2017; 54
Yang (CR87) 2019; 5
Topka (CR90) 2015; 11
Scollon (CR86) 2022; 69
J Schüz (45975_CR24) 2016; 47
B Lehnertz (45975_CR20) 2017; 130
MA Abbott (45975_CR71) 2006; 140
S Bender (45975_CR18) 2013; 24
S Ciceri (45975_CR80) 2018; 9
CR Darwin (45975_CR28) 1860; 25
E Sollis (45975_CR58) 2023; 51
KE Stanley (45975_CR39) 2020; 383
EM Fiala (45975_CR50) 2021; 2
45975_CR68
J da Silva (45975_CR75) 2012; 279
C Dupain (45975_CR11) 2017; 6
SM Waszak (45975_CR73) 2020; 580
J Schwartzentruber (45975_CR16) 2012; 482
A Villani (45975_CR35) 2023; 4
MW Jin (45975_CR22) 2016; 20
I Versteege (45975_CR21) 1998; 394
M Bodian (45975_CR74) 1953; 40
J Vitte (45975_CR8) 2017; 8
S Gupta (45975_CR84) 2019; 17
QT Ostrom (45975_CR26) 2019; 21
MLM Binderup (45975_CR72) 2017; 54
45975_CR56
45975_CR59
N Rahman (45975_CR95) 2014; 505
45975_CR54
S Scollon (45975_CR86) 2022; 69
JMY Ng (45975_CR6) 2015; 75
S Newman (45975_CR51) 2021; 11
JA Oberg (45975_CR48) 2016; 8
45975_CR44
Y Ma (45975_CR9) 2013; 110
45975_CR45
EA Sweet-Cordero (45975_CR15) 2019; 363
SE Greenberg (45975_CR65) 2020; 22
M Pathania (45975_CR4) 2017; 32
KR Schultz (45975_CR12) 2009; 27
45975_CR42
45975_CR43
L Amar (45975_CR63) 2021; 17
J Wegert (45975_CR81) 2015; 27
RL Siegel (45975_CR27) 2017; 67
Huang (45975_CR55) 2018; 173
A Byrjalsen (45975_CR41) 2021; 20
KG Roberts (45975_CR14) 2014; 371
N Burnichon (45975_CR64) 2009; 94
45975_CR34
J Foss-Skiftesvik (45975_CR93) 2022; 10
K Funato (45975_CR3) 2014; 346
OE Idowu (45975_CR23) 2008; 8
DW Parsons (45975_CR46) 2016; 1200
S Topka (45975_CR90) 2015; 11
D Sturm (45975_CR19) 2012; 22
JA Hol (45975_CR82) 2022; 40
G Wu (45975_CR17) 2012; 44
FK Satterstrom (45975_CR38) 2020; 180
C Yang (45975_CR87) 2019; 5
P Sovinz (45975_CR70) 2010; 152A
A Sud (45975_CR57) 2017; 17
EG Seaby (45975_CR40) 2023; 142
AS Hoekstra (45975_CR67) 2016; 25
SN Gröbner (45975_CR10) 2018; 555
BJP Huntly (45975_CR5) 2004; 6
45975_CR25
K von Stedingk (45975_CR52) 2021; 11
J Zhang (45975_CR33) 2015; 373
JG Kingsolver (45975_CR29) 2001; 157
X Ma (45975_CR2) 2018; 555
L Noetzli (45975_CR88) 2015; 47
SM Waszak (45975_CR32) 2018; 19
KJ Karczewski (45975_CR36) 2020; 581
M Wong (45975_CR49) 2020; 26
H Imamura (45975_CR62) 2016; 175
M Myrskylä (45975_CR30) 2013; 177
RJ Mody (45975_CR47) 2015; 314
S Gadd (45975_CR79) 2017; 49
S Mahamdallie (45975_CR92) 2019; 3
45975_CR97
D Astuti (45975_CR78) 2012; 44
M Begemann (45975_CR76) 2020; 38
X Zhou (45975_CR96) 2015; 48
T Moriyama (45975_CR91) 2015; 16
SP Rednam (45975_CR60) 2017; 23
YS Khandwala (45975_CR31) 2018; 363
F Mertens (45975_CR13) 2015; 15
KS King (45975_CR61) 2011; 29
KA Cronin (45975_CR1) 2022; 128
MY Zhang (45975_CR89) 2015; 47
ZY Han (45975_CR7) 2016; 7
N Nouhravesh (45975_CR37) 2016; 4
45975_CR85
GFC Fagundes (45975_CR69) 2019; 3
DW Parsons (45975_CR83) 2016; 2
KA Andrews (45975_CR66) 2018; 55
N Abramovs (45975_CR94) 2020; 52
R Wagener (45975_CR53) 2021; 29
MJ Smith (45975_CR77) 2023; 22
References_xml – ident: CR45
– volume: 1200
  start-page: 1
  year: 2016
  end-page: 9
  ident: CR46
  article-title: Sequencing for children with solid tumors
  publication-title: JAMA Oncol.
– ident: CR97
– volume: 175
  start-page: 137
  year: 2016
  end-page: 141
  ident: CR62
  article-title: Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl
  publication-title: Eur. J. Pediatr.
  doi: 10.1007/s00431-015-2614-5
– ident: CR68
– volume: 47
  start-page: 607
  year: 2016
  end-page: 614
  ident: CR24
  article-title: Environmental exposure and risk of childhood leukemia: an overview
  publication-title: Arch. Med. Res.
  doi: 10.1016/j.arcmed.2016.11.017
– volume: 8
  year: 2017
  ident: CR8
  article-title: Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development
  publication-title: Nat. Commun.
  doi: 10.1038/s41467-017-00346-5
– volume: 128
  start-page: 4251
  year: 2022
  end-page: 4284
  ident: CR1
  article-title: Annual report to the nation on the status of cancer, part 1: national cancer statistics
  publication-title: Cancer.
  doi: 10.1002/cncr.34479
– volume: 6
  start-page: 587
  year: 2004
  end-page: 596
  ident: CR5
  article-title: MOZ-TIF2, but not BCR-ABL, confers properties of leukemic stem cells to committed murine hematopoietic progenitors
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccr.2004.10.015
– ident: CR54
– volume: 11
  start-page: e1005262
  year: 2015
  ident: CR90
  article-title: Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1005262
– ident: CR25
– ident: CR42
– volume: 140
  start-page: 685
  year: 2006
  end-page: 690
  ident: CR71
  article-title: The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma
  publication-title: Am. J. Med. Genet. A.
  doi: 10.1002/ajmg.a.31116
– volume: 44
  start-page: 251
  year: 2012
  end-page: 253
  ident: CR17
  article-title: Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas
  publication-title: Nat. Genet.
  doi: 10.1038/ng.1102
– volume: 20
  start-page: 279
  year: 2021
  end-page: 287
  ident: CR41
  article-title: Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
  publication-title: Fam. Cancer
  doi: 10.1007/s10689-021-00254-0
– volume: 26
  start-page: 1742
  year: 2020
  end-page: 1753
  ident: CR49
  article-title: Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
  publication-title: Nat. Med.
  doi: 10.1038/s41591-020-1072-4
– volume: 49
  start-page: 1487
  year: 2017
  end-page: 1494
  ident: CR79
  article-title: A Children’s Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3940
– volume: 17
  start-page: 1032
  year: 2019
  end-page: 1041
  ident: CR84
  article-title: NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 2.2019
  publication-title: J. Natl. Compr. Cancer Netw. JNCCN.
  doi: 10.6004/jnccn.2019.0044
– volume: 94
  start-page: 2817
  year: 2009
  end-page: 2827
  ident: CR64
  article-title: The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
  publication-title: J. Clin. Endocrinol. Metab.
  doi: 10.1210/jc.2008-2504
– volume: 11
  start-page: 3008
  year: 2021
  end-page: 3027
  ident: CR51
  article-title: Genomes for kids: the scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing
  publication-title: Cancer Discov.
  doi: 10.1158/2159-8290.CD-20-1631
– ident: CR85
– volume: 2
  start-page: 616
  year: 2016
  end-page: 624
  ident: CR83
  article-title: Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors
  publication-title: JAMA Oncol.
  doi: 10.1001/jamaoncol.2015.5699
– volume: 9
  start-page: 34079
  year: 2018
  end-page: 34089
  ident: CR80
  article-title: Genetic and epigenetic analyses guided by high-resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility
  publication-title: Oncotarget.
  doi: 10.18632/oncotarget.26123
– volume: 383
  start-page: 1107
  year: 2020
  end-page: 1116
  ident: CR39
  article-title: Causal genetic variants in stillbirth
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1908753
– volume: 8
  year: 2016
  ident: CR48
  article-title: Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations
  publication-title: Genome Med.
  doi: 10.1186/s13073-016-0389-6
– volume: 394
  start-page: 203
  year: 1998
  end-page: 206
  ident: CR21
  article-title: Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
  publication-title: Nature.
  doi: 10.1038/28212
– volume: 6
  start-page: 315
  year: 2017
  end-page: 326
  ident: CR11
  article-title: Relevance of fusion genes in pediatric cancers: toward precision medicine
  publication-title: Mol. Ther. Nucleic Acids.
  doi: 10.1016/j.omtn.2017.01.005
– volume: 346
  start-page: 1529
  year: 2014
  end-page: 1533
  ident: CR3
  article-title: Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation
  publication-title: Science.
  doi: 10.1126/science.1253799
– volume: 8
  start-page: 1
  year: 2008
  end-page: 4
  ident: CR23
  article-title: Environmental causes of childhood brain tumours
  publication-title: Afr Health Sci.
– volume: 40
  start-page: 368
  year: 1953
  end-page: 92
  ident: CR74
  article-title: The intracranial neoplastic diseases of childhood; a description of their natural history based on a clinico-pathological study of 129 cases
  publication-title: Br. J. Surg.
  doi: 10.1002/bjs.18004016213
– volume: 24
  start-page: 660
  year: 2013
  end-page: 672
  ident: CR18
  article-title: Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccr.2013.10.006
– volume: 4
  start-page: 617
  year: 2016
  end-page: 623
  ident: CR37
  article-title: Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy
  publication-title: Mol. Genet. Genomic Med.
  doi: 10.1002/mgg3.245
– volume: 2
  start-page: 357
  year: 2021
  end-page: 365
  ident: CR50
  article-title: Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors
  publication-title: Nat. Cancer.
  doi: 10.1038/s43018-021-00172-1
– ident: CR44
– volume: 555
  start-page: 371
  year: 2018
  end-page: 376
  ident: CR2
  article-title: Pan-cancer genome and transcriptome analyses of 1699 paediatric leukaemias and solid tumours
  publication-title: Nature.
  doi: 10.1038/nature25795
– volume: 75
  start-page: 4629
  year: 2015
  end-page: 4639
  ident: CR6
  article-title: Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53
  publication-title: Cancer Res.
  doi: 10.1158/0008-5472.CAN-15-0874
– volume: 3
  start-page: 322
  year: 2019
  end-page: 331
  ident: CR92
  article-title: Identification of new Wilms tumour predisposition genes: an exome sequencing study
  publication-title: Lancet Child Adolesc Health.
  doi: 10.1016/S2352-4642(19)30018-5
– volume: 10
  start-page: 123
  year: 2022
  ident: CR93
  article-title: Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort
  publication-title: Acta Neuropathol. Commun.
  doi: 10.1186/s40478-022-01429-1
– volume: 16
  start-page: 1659
  year: 2015
  end-page: 1666
  ident: CR91
  article-title: Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study
  publication-title: Lancet Oncol.
  doi: 10.1016/S1470-2045(15)00369-1
– volume: 505
  start-page: 302
  year: 2014
  end-page: 308
  ident: CR95
  article-title: Realizing the promise of cancer predisposition genes
  publication-title: Nature.
  doi: 10.1038/nature12981
– volume: 152A
  start-page: 1752
  year: 2010
  end-page: 1755
  ident: CR70
  article-title: Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R
  publication-title: Am. J. Med. Genet. A.
  doi: 10.1002/ajmg.a.33407
– volume: 47
  start-page: 180
  year: 2015
  end-page: 185
  ident: CR89
  article-title: Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3177
– volume: 173
  start-page: 355
  year: 2018
  end-page: 370.e14
  ident: CR55
  article-title: Pathogenic germline variants in 10,389 adult cancers
  publication-title: Cell.
  doi: 10.1016/j.cell.2018.03.039
– volume: 23
  start-page: e68
  year: 2017
  end-page: e75
  ident: CR60
  article-title: Von Hippel-Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood
  publication-title: Clin. Cancer Res. Off. J. Am. Assoc. Cancer Res.
  doi: 10.1158/1078-0432.CCR-17-0547
– volume: 27
  start-page: 298
  year: 2015
  end-page: 311
  ident: CR81
  article-title: Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccell.2015.01.002
– volume: 314
  start-page: 913
  year: 2015
  ident: CR47
  article-title: Integrative clinical sequencing in the management of refractory or relapsed cancer in youth
  publication-title: JAMA.
  doi: 10.1001/jama.2015.10080
– volume: 27
  start-page: 5175
  year: 2009
  end-page: 5181
  ident: CR12
  article-title: Improved early event-free survival with imatinib in Philadelphia chromosome-positive acute lymphoblastic leukemia: a children’s oncology group study
  publication-title: J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol.
  doi: 10.1200/JCO.2008.21.2514
– volume: 48
  start-page: 4
  year: 2015
  end-page: 6
  ident: CR96
  article-title: Exploring genomic alteration in pediatric cancer using ProteinPaint
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3466
– volume: 373
  start-page: 2336
  year: 2015
  end-page: 2346
  ident: CR33
  article-title: Germline mutations in predisposition genes in pediatric cancer
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1508054
– volume: 17
  start-page: 435
  year: 2021
  end-page: 444
  ident: CR63
  article-title: International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
  publication-title: Nat. Rev. Endocrinol.
  doi: 10.1038/s41574-021-00492-3
– volume: 22
  start-page: 2101
  year: 2020
  end-page: 2107
  ident: CR65
  article-title: Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome
  publication-title: Genet. Med. Off. J. Am. Coll. Med. Genet.
– volume: 142
  start-page: 351
  year: 2023
  end-page: 362
  ident: CR40
  article-title: Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
  publication-title: Hum. Genet.
  doi: 10.1007/s00439-022-02509-x
– volume: 22
  start-page: 425
  year: 2012
  end-page: 437
  ident: CR19
  article-title: Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccr.2012.08.024
– volume: 55
  start-page: 1
  year: 2018
  end-page: 11
  ident: CR66
  article-title: Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
  publication-title: J. Med. Genet.
  doi: 10.1136/jmedgenet-2017-105127
– volume: 580
  start-page: 396
  year: 2020
  end-page: 401
  ident: CR73
  article-title: Germline Elongator mutations in Sonic Hedgehog medulloblastoma
  publication-title: Nature
  doi: 10.1038/s41586-020-2164-5
– volume: 40
  start-page: 1892
  year: 2022
  end-page: 1902
  ident: CR82
  article-title: Prevalence of (Epi)genetic predisposing factors in a 5-year unselected national wilms tumor cohort: a comprehensive clinical and genomic characterization
  publication-title: J. Clin. Oncol.
  doi: 10.1200/JCO.21.02510
– volume: 11
  year: 2021
  ident: CR52
  article-title: Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
  publication-title: Sci. Rep.
  doi: 10.1038/s41598-021-84502-4
– volume: 17
  start-page: 692
  year: 2017
  end-page: 704
  ident: CR57
  article-title: Genome-wide association studies of cancer: current insights and future perspectives
  publication-title: Nat. Rev. Cancer.
  doi: 10.1038/nrc.2017.82
– volume: 25
  start-page: 3715
  year: 2016
  end-page: 3728
  ident: CR67
  article-title: Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddw218
– volume: 54
  start-page: 11
  year: 2017
  end-page: 18
  ident: CR72
  article-title: Survival and causes of death in patients with von Hippel-Lindau disease
  publication-title: J. Med. Genet.
  doi: 10.1136/jmedgenet-2016-104058
– volume: 32
  start-page: 684
  year: 2017
  end-page: 700.e9
  ident: CR4
  article-title: H3.3K27M cooperates with Trp53 loss and PDGFRA gain in mouse embryonic neural progenitor cells to induce invasive high-grade gliomas
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccell.2017.09.014
– volume: 555
  start-page: 321
  year: 2018
  end-page: 327
  ident: CR10
  article-title: The landscape of genomic alterations across childhood cancers
  publication-title: Nature.
  doi: 10.1038/nature25480
– volume: 110
  start-page: 7429
  year: 2013
  end-page: 7433
  ident: CR9
  article-title: Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia
  publication-title: Proc. Natl Acad. Sci. USA.
  doi: 10.1073/pnas.1221099110
– volume: 29
  start-page: 1301
  year: 2021
  end-page: 1311
  ident: CR53
  article-title: Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer
  publication-title: Eur. J. Hum. Genet. EJHG.
  doi: 10.1038/s41431-021-00878-x
– volume: 22
  start-page: 341
  year: 2023
  end-page: 344
  ident: CR77
  article-title: Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
  publication-title: Fam. Cancer.
  doi: 10.1007/s10689-023-00330-7
– volume: 363
  start-page: 1170
  year: 2019
  end-page: 1175
  ident: CR15
  article-title: The genomic landscape of pediatric cancers: Implications for diagnosis and treatment
  publication-title: Science.
  doi: 10.1126/science.aaw3535
– volume: 67
  start-page: 7
  year: 2017
  end-page: 30
  ident: CR27
  article-title: Cancer Statistics, 2017
  publication-title: CA Cancer J. Clin.
  doi: 10.3322/caac.21387
– volume: 5
  start-page: a003863
  year: 2019
  ident: CR87
  article-title: Lynch syndrome–associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome
  publication-title: Cold Spring Harb. Mol. Case Stud.
  doi: 10.1101/mcs.a003863
– volume: 19
  start-page: 785
  year: 2018
  end-page: 798
  ident: CR32
  article-title: Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
  publication-title: Lancet Oncol.
  doi: 10.1016/S1470-2045(18)30242-0
– volume: 482
  start-page: 226
  year: 2012
  end-page: 231
  ident: CR16
  article-title: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
  publication-title: Nature.
  doi: 10.1038/nature10833
– volume: 371
  start-page: 1005
  year: 2014
  end-page: 1015
  ident: CR14
  article-title: Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1403088
– ident: CR43
– volume: 3
  start-page: 1682
  year: 2019
  end-page: 1692
  ident: CR69
  article-title: New insights into pheochromocytoma surveillance of young patients with VHL missense mutations
  publication-title: J. Endocr. Soc.
  doi: 10.1210/js.2019-00225
– volume: 7
  year: 2016
  ident: CR7
  article-title: The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation
  publication-title: Nat. Commun.
  doi: 10.1038/ncomms10421
– volume: 47
  start-page: 535
  year: 2015
  end-page: 538
  ident: CR88
  article-title: Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3253
– volume: 15
  start-page: 371
  year: 2015
  end-page: 381
  ident: CR13
  article-title: The emerging complexity of gene fusions in cancer
  publication-title: Nat. Rev. Cancer.
  doi: 10.1038/nrc3947
– volume: 157
  start-page: 245
  year: 2001
  end-page: 261
  ident: CR29
  article-title: The strength of phenotypic selection in natural populations
  publication-title: Am. Nat.
  doi: 10.1086/319193
– volume: 29
  start-page: 4137
  year: 2011
  end-page: 4142
  ident: CR61
  article-title: Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations
  publication-title: J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol.
  doi: 10.1200/JCO.2011.34.6353
– volume: 38
  start-page: 43
  year: 2020
  end-page: 50
  ident: CR76
  article-title: Germline GPR161 mutations predispose to pediatric medulloblastoma
  publication-title: J. Clin. Oncol.
  doi: 10.1200/JCO.19.00577
– volume: 69
  year: 2022
  ident: CR86
  article-title: Clinical and molecular features of pediatric cancer patients with Lynch syndrome
  publication-title: Pediatr. Blood Cancer.
  doi: 10.1002/pbc.29859
– volume: 25
  start-page: 367
  year: 1860
  end-page: 404
  ident: CR28
  article-title: On the origin of species by means of natural selection, or the preservation of favoured races in the struggle for life
  publication-title: Br Foreign Medico-Chir Rev.
– volume: 44
  start-page: 277
  year: 2012
  end-page: 284
  ident: CR78
  article-title: Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
  publication-title: Nat. Genet.
  doi: 10.1038/ng.1071
– volume: 363
  start-page: k4372
  year: 2018
  ident: CR31
  article-title: Association of paternal age with perinatal outcomes between 2007 and 2016 in the United States: population based cohort study
  publication-title: BMJ.
  doi: 10.1136/bmj.k4372
– ident: CR56
– volume: 20
  start-page: 3760
  year: 2016
  end-page: 3764
  ident: CR22
  article-title: A review of risk factors for childhood leukemia
  publication-title: Eur. Rev. Med. Pharmacol. Sci.
– volume: 177
  start-page: 649
  year: 2013
  end-page: 655
  ident: CR30
  article-title: Is later better or worse? Association of advanced parental age with offspring cognitive ability among half a million young Swedish men
  publication-title: Am. J. Epidemiol.
  doi: 10.1093/aje/kws237
– volume: 130
  start-page: 2204
  year: 2017
  end-page: 2214
  ident: CR20
  article-title: H3K27M/I mutations promote context-dependent transformation in acute myeloid leukemia with RUNX1 alterations
  publication-title: Blood.
  doi: 10.1182/blood-2017-03-774653
– volume: 21
  start-page: 1357
  year: 2019
  end-page: 1375
  ident: CR26
  article-title: Risk factors for childhood and adult primary brain tumors
  publication-title: Neuro-Oncol.
  doi: 10.1093/neuonc/noz123
– volume: 180
  start-page: 568
  year: 2020
  end-page: 584.e23
  ident: CR38
  article-title: Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
  publication-title: Cell.
  doi: 10.1016/j.cell.2019.12.036
– volume: 52
  start-page: 35
  year: 2020
  end-page: 39
  ident: CR94
  article-title: GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes
  publication-title: Nat. Genet.
  doi: 10.1038/s41588-019-0560-2
– volume: 279
  start-page: 2926
  year: 2012
  end-page: 2929
  ident: CR75
  article-title: BRCA1/2 mutations, fertility and the grandmother effect
  publication-title: Proc. R. Soc. B. Biol. Sci.
  doi: 10.1098/rspb.2012.0542
– volume: 4
  start-page: 203
  year: 2023
  end-page: 221
  ident: CR35
  article-title: The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
  publication-title: Nat. Cancer.
  doi: 10.1038/s43018-022-00474-y
– ident: CR34
– volume: 581
  start-page: 434
  year: 2020
  end-page: 443
  ident: CR36
  article-title: The mutational constraint spectrum quantified from variation in 141,456 humans
  publication-title: Nature.
  doi: 10.1038/s41586-020-2308-7
– ident: CR59
– volume: 51
  start-page: D977
  year: 2023
  end-page: D985
  ident: CR58
  article-title: The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkac1010
– volume: 23
  start-page: e68
  year: 2017
  ident: 45975_CR60
  publication-title: Clin. Cancer Res. Off. J. Am. Assoc. Cancer Res.
  doi: 10.1158/1078-0432.CCR-17-0547
– volume: 180
  start-page: 568
  year: 2020
  ident: 45975_CR38
  publication-title: Cell.
  doi: 10.1016/j.cell.2019.12.036
– ident: 45975_CR44
– volume: 11
  year: 2021
  ident: 45975_CR52
  publication-title: Sci. Rep.
  doi: 10.1038/s41598-021-84502-4
– volume: 47
  start-page: 180
  year: 2015
  ident: 45975_CR89
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3177
– volume: 11
  start-page: 3008
  year: 2021
  ident: 45975_CR51
  publication-title: Cancer Discov.
  doi: 10.1158/2159-8290.CD-20-1631
– ident: 45975_CR97
  doi: 10.5281/zenodo.10393299
– volume: 40
  start-page: 1892
  year: 2022
  ident: 45975_CR82
  publication-title: J. Clin. Oncol.
  doi: 10.1200/JCO.21.02510
– volume: 17
  start-page: 1032
  year: 2019
  ident: 45975_CR84
  publication-title: J. Natl. Compr. Cancer Netw. JNCCN.
  doi: 10.6004/jnccn.2019.0044
– volume: 47
  start-page: 535
  year: 2015
  ident: 45975_CR88
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3253
– volume: 157
  start-page: 245
  year: 2001
  ident: 45975_CR29
  publication-title: Am. Nat.
  doi: 10.1086/319193
– volume: 8
  year: 2016
  ident: 45975_CR48
  publication-title: Genome Med.
  doi: 10.1186/s13073-016-0389-6
– volume: 177
  start-page: 649
  year: 2013
  ident: 45975_CR30
  publication-title: Am. J. Epidemiol.
  doi: 10.1093/aje/kws237
– volume: 40
  start-page: 368
  year: 1953
  ident: 45975_CR74
  publication-title: Br. J. Surg.
  doi: 10.1002/bjs.18004016213
– volume: 7
  year: 2016
  ident: 45975_CR7
  publication-title: Nat. Commun.
  doi: 10.1038/ncomms10421
– ident: 45975_CR85
– volume: 29
  start-page: 1301
  year: 2021
  ident: 45975_CR53
  publication-title: Eur. J. Hum. Genet. EJHG.
  doi: 10.1038/s41431-021-00878-x
– volume: 51
  start-page: D977
  year: 2023
  ident: 45975_CR58
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkac1010
– volume: 2
  start-page: 616
  year: 2016
  ident: 45975_CR83
  publication-title: JAMA Oncol.
  doi: 10.1001/jamaoncol.2015.5699
– volume: 94
  start-page: 2817
  year: 2009
  ident: 45975_CR64
  publication-title: J. Clin. Endocrinol. Metab.
  doi: 10.1210/jc.2008-2504
– ident: 45975_CR42
– volume: 5
  start-page: a003863
  year: 2019
  ident: 45975_CR87
  publication-title: Cold Spring Harb. Mol. Case Stud.
  doi: 10.1101/mcs.a003863
– volume: 24
  start-page: 660
  year: 2013
  ident: 45975_CR18
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccr.2013.10.006
– ident: 45975_CR59
– volume: 22
  start-page: 2101
  year: 2020
  ident: 45975_CR65
  publication-title: Genet. Med. Off. J. Am. Coll. Med. Genet.
– volume: 363
  start-page: k4372
  year: 2018
  ident: 45975_CR31
  publication-title: BMJ.
  doi: 10.1136/bmj.k4372
– volume: 27
  start-page: 298
  year: 2015
  ident: 45975_CR81
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccell.2015.01.002
– volume: 16
  start-page: 1659
  year: 2015
  ident: 45975_CR91
  publication-title: Lancet Oncol.
  doi: 10.1016/S1470-2045(15)00369-1
– ident: 45975_CR45
– volume: 130
  start-page: 2204
  year: 2017
  ident: 45975_CR20
  publication-title: Blood.
  doi: 10.1182/blood-2017-03-774653
– volume: 25
  start-page: 367
  year: 1860
  ident: 45975_CR28
  publication-title: Br Foreign Medico-Chir Rev.
– volume: 581
  start-page: 434
  year: 2020
  ident: 45975_CR36
  publication-title: Nature.
  doi: 10.1038/s41586-020-2308-7
– volume: 75
  start-page: 4629
  year: 2015
  ident: 45975_CR6
  publication-title: Cancer Res.
  doi: 10.1158/0008-5472.CAN-15-0874
– volume: 314
  start-page: 913
  year: 2015
  ident: 45975_CR47
  publication-title: JAMA.
  doi: 10.1001/jama.2015.10080
– volume: 38
  start-page: 43
  year: 2020
  ident: 45975_CR76
  publication-title: J. Clin. Oncol.
  doi: 10.1200/JCO.19.00577
– volume: 6
  start-page: 315
  year: 2017
  ident: 45975_CR11
  publication-title: Mol. Ther. Nucleic Acids.
  doi: 10.1016/j.omtn.2017.01.005
– volume: 1200
  start-page: 1
  year: 2016
  ident: 45975_CR46
  publication-title: JAMA Oncol.
– volume: 20
  start-page: 279
  year: 2021
  ident: 45975_CR41
  publication-title: Fam. Cancer
  doi: 10.1007/s10689-021-00254-0
– ident: 45975_CR56
– volume: 383
  start-page: 1107
  year: 2020
  ident: 45975_CR39
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1908753
– volume: 152A
  start-page: 1752
  year: 2010
  ident: 45975_CR70
  publication-title: Am. J. Med. Genet. A.
  doi: 10.1002/ajmg.a.33407
– volume: 17
  start-page: 692
  year: 2017
  ident: 45975_CR57
  publication-title: Nat. Rev. Cancer.
  doi: 10.1038/nrc.2017.82
– volume: 25
  start-page: 3715
  year: 2016
  ident: 45975_CR67
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddw218
– volume: 580
  start-page: 396
  year: 2020
  ident: 45975_CR73
  publication-title: Nature
  doi: 10.1038/s41586-020-2164-5
– volume: 67
  start-page: 7
  year: 2017
  ident: 45975_CR27
  publication-title: CA Cancer J. Clin.
  doi: 10.3322/caac.21387
– volume: 29
  start-page: 4137
  year: 2011
  ident: 45975_CR61
  publication-title: J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol.
  doi: 10.1200/JCO.2011.34.6353
– ident: 45975_CR25
  doi: 10.1007/978-3-319-39708-5_1
– volume: 69
  year: 2022
  ident: 45975_CR86
  publication-title: Pediatr. Blood Cancer.
  doi: 10.1002/pbc.29859
– volume: 346
  start-page: 1529
  year: 2014
  ident: 45975_CR3
  publication-title: Science.
  doi: 10.1126/science.1253799
– volume: 10
  start-page: 123
  year: 2022
  ident: 45975_CR93
  publication-title: Acta Neuropathol. Commun.
  doi: 10.1186/s40478-022-01429-1
– volume: 373
  start-page: 2336
  year: 2015
  ident: 45975_CR33
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1508054
– volume: 6
  start-page: 587
  year: 2004
  ident: 45975_CR5
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccr.2004.10.015
– volume: 32
  start-page: 684
  year: 2017
  ident: 45975_CR4
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccell.2017.09.014
– volume: 22
  start-page: 341
  year: 2023
  ident: 45975_CR77
  publication-title: Fam. Cancer.
  doi: 10.1007/s10689-023-00330-7
– volume: 142
  start-page: 351
  year: 2023
  ident: 45975_CR40
  publication-title: Hum. Genet.
  doi: 10.1007/s00439-022-02509-x
– volume: 55
  start-page: 1
  year: 2018
  ident: 45975_CR66
  publication-title: J. Med. Genet.
  doi: 10.1136/jmedgenet-2017-105127
– volume: 49
  start-page: 1487
  year: 2017
  ident: 45975_CR79
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3940
– volume: 9
  start-page: 34079
  year: 2018
  ident: 45975_CR80
  publication-title: Oncotarget.
  doi: 10.18632/oncotarget.26123
– volume: 140
  start-page: 685
  year: 2006
  ident: 45975_CR71
  publication-title: Am. J. Med. Genet. A.
  doi: 10.1002/ajmg.a.31116
– ident: 45975_CR68
– ident: 45975_CR43
– volume: 4
  start-page: 203
  year: 2023
  ident: 45975_CR35
  publication-title: Nat. Cancer.
  doi: 10.1038/s43018-022-00474-y
– volume: 394
  start-page: 203
  year: 1998
  ident: 45975_CR21
  publication-title: Nature.
  doi: 10.1038/28212
– volume: 52
  start-page: 35
  year: 2020
  ident: 45975_CR94
  publication-title: Nat. Genet.
  doi: 10.1038/s41588-019-0560-2
– volume: 47
  start-page: 607
  year: 2016
  ident: 45975_CR24
  publication-title: Arch. Med. Res.
  doi: 10.1016/j.arcmed.2016.11.017
– volume: 173
  start-page: 355
  year: 2018
  ident: 45975_CR55
  publication-title: Cell.
  doi: 10.1016/j.cell.2018.03.039
– volume: 26
  start-page: 1742
  year: 2020
  ident: 45975_CR49
  publication-title: Nat. Med.
  doi: 10.1038/s41591-020-1072-4
– volume: 555
  start-page: 371
  year: 2018
  ident: 45975_CR2
  publication-title: Nature.
  doi: 10.1038/nature25795
– volume: 20
  start-page: 3760
  year: 2016
  ident: 45975_CR22
  publication-title: Eur. Rev. Med. Pharmacol. Sci.
– volume: 44
  start-page: 277
  year: 2012
  ident: 45975_CR78
  publication-title: Nat. Genet.
  doi: 10.1038/ng.1071
– volume: 2
  start-page: 357
  year: 2021
  ident: 45975_CR50
  publication-title: Nat. Cancer.
  doi: 10.1038/s43018-021-00172-1
– volume: 15
  start-page: 371
  year: 2015
  ident: 45975_CR13
  publication-title: Nat. Rev. Cancer.
  doi: 10.1038/nrc3947
– volume: 279
  start-page: 2926
  year: 2012
  ident: 45975_CR75
  publication-title: Proc. R. Soc. B. Biol. Sci.
  doi: 10.1098/rspb.2012.0542
– volume: 110
  start-page: 7429
  year: 2013
  ident: 45975_CR9
  publication-title: Proc. Natl Acad. Sci. USA.
  doi: 10.1073/pnas.1221099110
– volume: 8
  start-page: 1
  year: 2008
  ident: 45975_CR23
  publication-title: Afr Health Sci.
– volume: 8
  year: 2017
  ident: 45975_CR8
  publication-title: Nat. Commun.
  doi: 10.1038/s41467-017-00346-5
– ident: 45975_CR54
  doi: 10.1136/jmg-2022-108854
– volume: 371
  start-page: 1005
  year: 2014
  ident: 45975_CR14
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1403088
– volume: 27
  start-page: 5175
  year: 2009
  ident: 45975_CR12
  publication-title: J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol.
  doi: 10.1200/JCO.2008.21.2514
– volume: 482
  start-page: 226
  year: 2012
  ident: 45975_CR16
  publication-title: Nature.
  doi: 10.1038/nature10833
– volume: 175
  start-page: 137
  year: 2016
  ident: 45975_CR62
  publication-title: Eur. J. Pediatr.
  doi: 10.1007/s00431-015-2614-5
– volume: 3
  start-page: 1682
  year: 2019
  ident: 45975_CR69
  publication-title: J. Endocr. Soc.
  doi: 10.1210/js.2019-00225
– volume: 44
  start-page: 251
  year: 2012
  ident: 45975_CR17
  publication-title: Nat. Genet.
  doi: 10.1038/ng.1102
– volume: 11
  start-page: e1005262
  year: 2015
  ident: 45975_CR90
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1005262
– volume: 3
  start-page: 322
  year: 2019
  ident: 45975_CR92
  publication-title: Lancet Child Adolesc Health.
  doi: 10.1016/S2352-4642(19)30018-5
– volume: 19
  start-page: 785
  year: 2018
  ident: 45975_CR32
  publication-title: Lancet Oncol.
  doi: 10.1016/S1470-2045(18)30242-0
– volume: 17
  start-page: 435
  year: 2021
  ident: 45975_CR63
  publication-title: Nat. Rev. Endocrinol.
  doi: 10.1038/s41574-021-00492-3
– volume: 363
  start-page: 1170
  year: 2019
  ident: 45975_CR15
  publication-title: Science.
  doi: 10.1126/science.aaw3535
– volume: 54
  start-page: 11
  year: 2017
  ident: 45975_CR72
  publication-title: J. Med. Genet.
  doi: 10.1136/jmedgenet-2016-104058
– volume: 505
  start-page: 302
  year: 2014
  ident: 45975_CR95
  publication-title: Nature.
  doi: 10.1038/nature12981
– volume: 128
  start-page: 4251
  year: 2022
  ident: 45975_CR1
  publication-title: Cancer.
  doi: 10.1002/cncr.34479
– volume: 4
  start-page: 617
  year: 2016
  ident: 45975_CR37
  publication-title: Mol. Genet. Genomic Med.
  doi: 10.1002/mgg3.245
– ident: 45975_CR34
  doi: 10.1371/journal.pgen.1009231
– volume: 22
  start-page: 425
  year: 2012
  ident: 45975_CR19
  publication-title: Cancer Cell.
  doi: 10.1016/j.ccr.2012.08.024
– volume: 555
  start-page: 321
  year: 2018
  ident: 45975_CR10
  publication-title: Nature.
  doi: 10.1038/nature25480
– volume: 21
  start-page: 1357
  year: 2019
  ident: 45975_CR26
  publication-title: Neuro-Oncol.
  doi: 10.1093/neuonc/noz123
– volume: 48
  start-page: 4
  year: 2015
  ident: 45975_CR96
  publication-title: Nat. Genet.
  doi: 10.1038/ng.3466
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Snippet Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline...
Abstract Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available...
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631/208/2489/68
631/67/69
692/4028/67/2332
Cancer
Childhood
Children
Constraints
Empirical analysis
Gene pool
Gene sequencing
Genes
Genomics
Health risks
Humanities and Social Sciences
MSH2 protein
multidisciplinary
Natural selection
Pediatrics
Population genetics
Risk
Science
Science (multidisciplinary)
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Title The evolutionary impact of childhood cancer on the human gene pool
URI https://link.springer.com/article/10.1038/s41467-024-45975-9
https://www.ncbi.nlm.nih.gov/pubmed/38424437
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Volume 15
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