Nevoid Basal Cell Carcinoma Syndrome
The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. Unlike other hereditary disorders associated with cancer, it features widespread developmental defects. Laboratory studies of radi...
Saved in:
Published in | Journal of investigative dermatology Vol. 103; no. 5; pp. S126 - S130 |
---|---|
Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.11.1994
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. Unlike other hereditary disorders associated with cancer, it features widespread developmental defects. Laboratory studies of radiation sensitivity and chromosome instability over the past 20 years have generally yielded negative or inconclusive results. Recently, screening for allelic loss in sporadic and hereditary basal cell carcinomas, hereditary ovarian fibromas, and sporadic medulloblastomas provided evidence for a tumor suppressor gene on chromosome 9q, important in all three tumor types. Demonstration of a chromosome 9q deletion in an unusual patient with this syndrome and genetic linkage studies in large kindreds indicated that the nevoid basal cell carcinoma syndrome gene maps to the exact same location lost in tumors. These data show that tumors arise with homozygous inactivation of the gene and imply that it normally functions as a tumor suppressor. In contrast, hemizygous germ-line mutations lead to multiple congenital anomalies. J Invest Dermatol 103:126S-130S, 1994 |
---|---|
AbstractList | The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. Unlike other hereditary disorders associated with cancer, it features widespread developmental defects. Laboratory studies of radiation sensitivity and chromosome instability over the past 20 years have generally yielded negative or inconclusive results. Recently, screening for allelic loss in sporadic and hereditary basal cell carcinomas, hereditary ovarian fibromas, and sporadic medulloblastomas provided evidence for a tumor suppressor gene on chromosome 9q, important in all three tumor types. Demonstration of a chromosome 9q deletion in an unusual patient with this syndrome and genetic linkage studies in large kindreds indicated that the nevoid basal cell carcinoma syndrome gene maps to the exact same location lost in tumors. These data show that tumors arise with homozygous inactivation of the gene and imply that it normally functions as a tumor suppressor. In contrast, hemizygous germ-line mutations lead to multiple congenital anomalies. The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. Unlike other hereditary disorders associated with cancer, it features widespread developmental defects. Laboratory studies of radiation sensitivity and chromosome instability over the past 20 years have generally yielded negative or inconclusive results. Recently, screening for allelic loss in sporadic and hereditary basal cell carcinomas, hereditary ovarian fibromas, and sporadic medulloblastomas provided evidence for a tumor suppressor gene on chromosome 9q, important in all three tumor types. Demonstration of a chromosome 9q deletion in an unusual patient with this syndrome and genetic linkage studies in large kindreds indicated that the nevoid basal cell carcinoma syndrome gene maps to the exact same location lost in tumors. These data show that tumors arise with homozygous inactivation of the gene and imply that it normally functions as a tumor suppressor. In contrast, hemizygous germ-line mutations lead to multiple congenital anomalies. J Invest Dermatol 103:126S-130S, 1994 |
Author | Bale, Allen E Leffell, David J Gailani, Mae R |
Author_xml | – sequence: 1 givenname: Allen E surname: Bale fullname: Bale, Allen E organization: Departments of Genetics, Yale University School of Medicine, New Haven, Connecticut, U.S.A – sequence: 2 givenname: Mae R surname: Gailani fullname: Gailani, Mae R organization: Pediatrics, Yale University School of Medicine, New Haven, Connecticut, U.S.A – sequence: 3 givenname: David J surname: Leffell fullname: Leffell, David J organization: Dermatology, Yale University School of Medicine, New Haven, Connecticut, U.S.A |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/7963674$$D View this record in MEDLINE/PubMed |
BookMark | eNptkMtLAzEQh4NUals9eRZ6EC_SmsfmsUctvqDoQQVvIZtMIKW7qUlb6H9vSosnLzOH-fjNzDdEvS52gNAlwVOCmbpbBDcldV1NKTtBA8IpmxBZyR4aYEzphGL6fYaGOS8wJqLiqo_6shZMyGqArt9gG4MbP5hsluMZLEsxyYYutmb8setcii2co1Nvlhkujn2Evp4eP2cvk_n78-vsfj6xVJWlnmIlOadU1g2WNbemxt57hRtLGyKJw7gylWqkd84KZZg3HmQjGGecGibYCN0cclcp_mwgr3Ubsi03mQ7iJmspFBU1qwp4ewBtijkn8HqVQmvSThOs9050caL3TjRlhb46xm6aFtwfe5RQ5vwwh_LbNkDS2QboLLiQwK61i-Hf3F-lZ259 |
CitedBy_id | crossref_primary_10_1016_j_adoms_2022_100370 crossref_primary_10_1007_s00292_014_1930_2 crossref_primary_10_1016_S0146_6435_98_00007_3 crossref_primary_10_1038_ng0196_85 crossref_primary_10_1074_jbc_271_21_12125 crossref_primary_10_1038_modpathol_3800512 crossref_primary_10_3109_07357909709115772 crossref_primary_10_1016_j_jssdds_2012_06_002 crossref_primary_10_1186_s13000_023_01406_9 crossref_primary_10_1038_srep24928 crossref_primary_10_1111_j_0022_202X_2004_22321_x |
ContentType | Journal Article |
Copyright | 1994 The Williams & Wilkins Co. |
Copyright_xml | – notice: 1994 The Williams & Wilkins Co. |
DBID | 6I. AAFTH CGR CUY CVF ECM EIF NPM AAYXX CITATION 7X8 |
DOI | 10.1038/jid.1994.23 |
DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef MEDLINE - Academic |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef MEDLINE - Academic |
DatabaseTitleList | MEDLINE MEDLINE - Academic |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1523-1747 |
EndPage | S130 |
ExternalDocumentID | 10_1038_jid_1994_23 7963674 S0022202X15575064 |
Genre | Research Support, Non-U.S. Gov't Journal Article Review |
GroupedDBID | --- --K .55 .GJ 0R~ 1B1 29K 2WC 36B 3O- 3V. 4.4 457 53G 5GY 5RE 5VS 6I. 7X7 88E 8AO 8FI 8FJ 8R4 8R5 AACTN AAEDW AAFTH AAIAV AALRI AAQFI AAXUO ABAWZ ABJNI ABLJU ABMAC ABUWG ABVKL ACGFO ACGFS ACPRK ADBBV ADEZE ADFRT ADQMX AENEX AEXQZ AFEBI AFFNX AFKRA AFTJW AGHFR AHMBA AHPSJ AI. AITUG ALMA_UNASSIGNED_HOLDINGS AMRAJ BAWUL BENPR BFHJK BPHCQ BVXVI CAG CCPQU COF CS3 D-I DIK E3Z EBS EJD F5P FDB FRP FYUFA GX1 HMCUK HZ~ IH2 IHE J5H JSO KQ8 L7B LH4 LW6 M1P M41 MVM NCXOZ NQ- O9- OK1 P2P PQQKQ PROAC PSQYO Q2X R9- RIG RNS ROL RPZ SSZ TR2 UKHRP VH1 W2D X7M Y6R YFH YOC YUY ZGI 0SF AKRWK CGR CUY CVF ECM EIF NPM AAYXX ADVLN AFETI ALIPV CITATION 7X8 |
ID | FETCH-LOGICAL-c2823-f2087552279b0795ca90fff80bc2b171d004a48b7fddc68a3fafe7b635352a363 |
IEDL.DBID | ABVKL |
ISSN | 0022-202X |
IngestDate | Fri Aug 16 07:43:00 EDT 2024 Thu Sep 12 16:56:27 EDT 2024 Thu May 23 23:54:51 EDT 2024 Fri Feb 23 02:34:33 EST 2024 |
IsDoiOpenAccess | true |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 5 |
Keywords | gorlin syndrome tumor suppressor birth defects neoplasia |
Language | English |
License | http://www.elsevier.com/open-access/userlicense/1.0 |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c2823-f2087552279b0795ca90fff80bc2b171d004a48b7fddc68a3fafe7b635352a363 |
Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S0022202X15575064 |
PMID | 7963674 |
PQID | 76826934 |
PQPubID | 23479 |
ParticipantIDs | proquest_miscellaneous_76826934 crossref_primary_10_1038_jid_1994_23 pubmed_primary_7963674 elsevier_sciencedirect_doi_10_1038_jid_1994_23 |
PublicationCentury | 1900 |
PublicationDate | 1994-Nov |
PublicationDateYYYYMMDD | 1994-11-01 |
PublicationDate_xml | – month: 11 year: 1994 text: 1994-Nov |
PublicationDecade | 1990 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States |
PublicationTitle | Journal of investigative dermatology |
PublicationTitleAlternate | J Invest Dermatol |
PublicationYear | 1994 |
Publisher | Elsevier Inc |
Publisher_xml | – name: Elsevier Inc |
SSID | ssj0016458 |
Score | 1.6092961 |
SecondaryResourceType | review_article |
Snippet | The nevoid basal cell carcinoma syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and... |
SourceID | proquest crossref pubmed elsevier |
SourceType | Aggregation Database Index Database Publisher |
StartPage | S126 |
SubjectTerms | Alleles Basal Cell Nevus Syndrome - genetics birth defects Chromosome Mapping Chromosomes, Human, Pair 9 Gene Deletion Genes, Tumor Suppressor gorlin syndrome Humans neoplasia tumor suppressor |
Title | Nevoid Basal Cell Carcinoma Syndrome |
URI | https://dx.doi.org/10.1038/jid.1994.23 https://www.ncbi.nlm.nih.gov/pubmed/7963674 https://search.proquest.com/docview/76826934 |
Volume | 103 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3PT8IwFH5BSIwX4y8i_uTAdTDaruuOQCREhYtiuDXt1iYYHUTAv9_X0ZGYyMHLDsteunxr3vd1r-8rQMugahNUZEGobRQwzUiQcJIFwkSR4ilSinY_9McTPpqyx1k0q8Cg7IVx2yp97t_m9CJb-zsdj2ZnOZ-7Hl_ktpDMkBFjZ7t2ADUS85BUodbrvz0974oJnEWiNA13Ab5NL6Si8z7PXL8eaxO6j5j2Cc-CgIYncOyVY7O3fblTqJj8DA7HvjZ-Dq2J-V7Ms2ZfrfCxgfnAizsoKF98quaLNya4gOnw4XUwCvwZCEGKiyEaWOIs5yPn86fDOIlSlYTWWhHqlOhu3M1wkismdGyzLOVCUausiTXKCFRWinJah2q-yM0lNLOEuUidJs6AxyaKI7tzkji7Gqq7qgGtEgC53FpdyKJETYVEnKTDSRLagHYJjvz1pSQm4b8D7ksIJc5dV5BQuVlsVhKXOoQnlDWgvkV2N26MeYHH7Oq_Y13DUWF2XDQL3kB1_bUxt6ga1vrOz4ofk_W9Yg |
link.rule.ids | 315,786,790,27602,27957,27958,45698 |
linkProvider | Elsevier |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3JTsMwEB1BKwEXxCrK2kOvoantOPaxVKBClwuLerPsxJaKIK1oy_czTh0kJDhwySHKyNGLNe8543kGaFlUbYKKPIqNSyJmGIkkJ3kkbJJoniGlGP9DfzTm_Wf2MEkmG9CremH8tsqQ-9c5vczW4U47oNmeT6e-xxe5LSYTZMTU265tQh3VgBQ1qHdvXgbD72ICZ4moTMN9QGjTi6lov05z36_Hrgn9i5j-Ep4lAd3twW5Qjs3u-uX2YcMWB7A1CrXxQ2iN7edsmjdv9AIf69k3vPiDgorZu24-BmOCI3i-u33q9aNwBkKU4WKIRo54y_nE-_yZOJVJpmXsnBOxyYjppJ0cJ7lmwqQuzzMuNHXa2dSgjEBlpSmnx1ArZoU9gWYumY80mfQGPE5qjuzOifR2NdR0dANaFQBqvra6UGWJmgqFOCmPkyK0AdcVOOrHl1KYhH8PuKogVDh3fUFCF3a2Wihc6hAuKWvA8RrZ73FTzAs8Zaf_HesKtvtPo6Ea3o8HZ7BTGh-XjYPnUFt-rOwFKoiluQwz5Au0ysBb |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Nevoid+basal+cell+carcinoma+syndrome&rft.jtitle=Journal+of+investigative+dermatology&rft.au=Bale%2C+A+E&rft.au=Gailani%2C+M+R&rft.au=Leffell%2C+D+J&rft.date=1994-11-01&rft.issn=0022-202X&rft.eissn=1523-1747&rft.volume=103&rft.issue=5+Suppl&rft.spage=126S&rft_id=info:doi/10.1038%2Fjid.1994.23&rft_id=info%3Apmid%2F7963674&rft.externalDocID=7963674 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0022-202X&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0022-202X&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0022-202X&client=summon |