ミスマッチ修復遺伝子の胚細胞遺伝子変異が確認された遺伝性非ポリポーシス大腸癌の1家系

hMSH2, エク‘ノン11, コドン568〜569の2bp欠失という胚細胞迫伝子変異が認められた遺伝性非ポリポーシス大腸瘍(HNPCC)の1家系を報告した．本家系は3代にわたり4名の大腸癌患者が発生し．発端者の母は異時 性大腸多発瘍と子宮体癌を重複し．母方祖母は大腸癌と尿管癌の異時性重複癌症例であった．発端者は22歳で腫 瘍死しているが，このような若年死を防ぐためにも臨床的にHNPCCが疑われたならば迫伝子診断が有用であり，そ してサーヴェイランスが必要である．...

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Published in家族性腫瘍 Vol. 2; no. 1; pp. 26 - 28
Main Authors 北村, 正敏, 山田, 睦夫, 阿部, 力哉, 野水, 整, 菅野, 博隆, 湯浅, 保仁, 竹之下, 誠—, 鈴木, 謙, 渡辺, 興治, 秋山, 好光
Format Journal Article
LanguageJapanese
Published 日本家族性腫瘍学会 2002
一般社団法人日本遺伝性腫瘍学会
The Japanese Society for Hereditary Tumors
Subjects
genetic testing, hMSH2
遺伝子診断, hMSH2
Online AccessGet full text
ISSN1346-1052
2189-6674
DOI10.18976/jsft.2.1_26

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Abstract hMSH2, エク‘ノン11, コドン568〜569の2bp欠失という胚細胞迫伝子変異が認められた遺伝性非ポリポーシス大腸瘍(HNPCC)の1家系を報告した．本家系は3代にわたり4名の大腸癌患者が発生し．発端者の母は異時 性大腸多発瘍と子宮体癌を重複し．母方祖母は大腸癌と尿管癌の異時性重複癌症例であった．発端者は22歳で腫 瘍死しているが，このような若年死を防ぐためにも臨床的にHNPCCが疑われたならば迫伝子診断が有用であり，そ してサーヴェイランスが必要である．
AbstractList A HNPCC (Hereditary N onpolyposis Colo rectal Cancer) family with a germline mutation of mismatch repair gene was reported. Two base pair deletion was detected at codon 568-569 in exon 11 of hMSH2 gene. The proband of this family was a 21-year-old male who had an advanced sigmoid colon cancer with high aggregation of cancers, in his family. His maternal grandmother developed colon and ureteral cancers, and his mother developed colon and endometrial cancers. His maternal aunt also developed a colon cancer. Genetic testing of mismatch repair genes inclusive of hMSH2 and hMLHJ was performed to five family members with informed consents. Germline mutations of hMSH2 were recognized in three affected members and also in two of the asymptomatic family members, younger brother·of the pro band and a sun of affected aunt. hMSH2, エク‘ノン11, コドン568〜569の2bp欠失という胚細胞迫伝子変異が認められた遺伝性非ポリポーシス大腸瘍(HNPCC)の1家系を報告した．本家系は3代にわたり4名の大腸癌患者が発生し．発端者の母は異時 性大腸多発瘍と子宮体癌を重複し．母方祖母は大腸癌と尿管癌の異時性重複癌症例であった．発端者は22歳で腫 瘍死しているが，このような若年死を防ぐためにも臨床的にHNPCCが疑われたならば迫伝子診断が有用であり，そ してサーヴェイランスが必要である．
hMSH2, エク‘ノン11, コドン568〜569の2bp欠失という胚細胞迫伝子変異が認められた遺伝性非ポリポーシス大腸瘍(HNPCC)の1家系を報告した．本家系は3代にわたり4名の大腸癌患者が発生し．発端者の母は異時 性大腸多発瘍と子宮体癌を重複し．母方祖母は大腸癌と尿管癌の異時性重複癌症例であった．発端者は22歳で腫 瘍死しているが，このような若年死を防ぐためにも臨床的にHNPCCが疑われたならば迫伝子診断が有用であり，そ してサーヴェイランスが必要である．
Author 阿部, 力哉
菅野, 博隆
秋山, 好光
湯浅, 保仁
竹之下, 誠
渡辺, 興治
鈴木, 謙
山田, 睦夫
北村, 正敏
野水, 整
Author_FL Takenosita Seiichi
野水 整
Abe Rikiya
北村 正敏
Kanno Hirotaka
山田 睦夫
Yuasa Yasuhito
Watanabe Koji
Suzuki Yuzuru
Akiyama Yoshimitsu
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  fullname: Akiyama Yoshimitsu
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  fullname: Watanabe Koji
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References 8) Konishi M, Kikuchi-Yanoshita R. Tanaka K, et al. : Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 1996; 111: 307-317.
10) Jass JR : Pathology of hereditary nonpolyposis colorectal cancer. Ann NY Acad Sci 2000 ; 910 : 62-74.
3) 馬場正三． 湯浅保仁：遺伝性非腺腿性大腸癌． 宇都宮誤二監修：家族性腿瘍． 束京：中山杏店， 1998 : 273-279.
7) Jass JR, Cottier DS, Jeevaratnam P, et al. : Diagnostic use of microsatellite instability in hereditary nonpolyposis colorectal cancer. Lancet 1995; 346: 1200-1201.
6) Lin KM, Shashidharan M, Ternet CA, et al. : Colorectal and extrncolonic cancer variations in MLH1/Msh2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998; 41: 428-433.
9)野水整， 渡辺文明， 八巻義雄， 他：迫伝性非ポリポーシス大腸癌の手術術式の適応と迫伝子診断． 日消外会誌1997; 30: 915-919.
5) Herfarth KK-F, Kodner IJ, Whelan AJ, et al. : Mutation in MLHl are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chrom Cancer 1997; 18: 42-49.
1) Warthin AS: Heredity with reference to carcinoma. Arch Intern Med 1913 ;12: 546-555.
11)野水整， 土屋敦雄， 渡辺文明， 他：迫伝性非ポリポージス大腸1品の臨床的検討． 癌の臨床1992 ; 38: 1722-1730.
2) Vasen HF, Mecklin JP, Khan PM, et al. : The international collaborative group on hereditary nonpolyposis colorectal cancer(ICG-HNPCC). Dis Colon Rectum 1991 ; 34: 424-425.
4) Vasen HF, Watson P, Mecklin JP, et al. : New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999; 116: 1453-1456.
References_xml – reference: 6) Lin KM, Shashidharan M, Ternet CA, et al. : Colorectal and extrncolonic cancer variations in MLH1/Msh2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998; 41: 428-433.
– reference: 9)野水整， 渡辺文明， 八巻義雄， 他：迫伝性非ポリポーシス大腸癌の手術術式の適応と迫伝子診断． 日消外会誌1997; 30: 915-919.
– reference: 4) Vasen HF, Watson P, Mecklin JP, et al. : New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999; 116: 1453-1456.
– reference: 2) Vasen HF, Mecklin JP, Khan PM, et al. : The international collaborative group on hereditary nonpolyposis colorectal cancer(ICG-HNPCC). Dis Colon Rectum 1991 ; 34: 424-425.
– reference: 7) Jass JR, Cottier DS, Jeevaratnam P, et al. : Diagnostic use of microsatellite instability in hereditary nonpolyposis colorectal cancer. Lancet 1995; 346: 1200-1201.
– reference: 8) Konishi M, Kikuchi-Yanoshita R. Tanaka K, et al. : Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 1996; 111: 307-317.
– reference: 10) Jass JR : Pathology of hereditary nonpolyposis colorectal cancer. Ann NY Acad Sci 2000 ; 910 : 62-74.
– reference: 11)野水整， 土屋敦雄， 渡辺文明， 他：迫伝性非ポリポージス大腸1品の臨床的検討． 癌の臨床1992 ; 38: 1722-1730.
– reference: 1) Warthin AS: Heredity with reference to carcinoma. Arch Intern Med 1913 ;12: 546-555.
– reference: 3) 馬場正三． 湯浅保仁：遺伝性非腺腿性大腸癌． 宇都宮誤二監修：家族性腿瘍． 束京：中山杏店， 1998 : 273-279.
– reference: 5) Herfarth KK-F, Kodner IJ, Whelan AJ, et al. : Mutation in MLHl are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chrom Cancer 1997; 18: 42-49.
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Snippet hMSH2, エク‘ノン11, コドン568〜569の2bp欠失という胚細胞迫伝子変異が認められた遺伝性非ポリポーシス大腸瘍(HNPCC)の1家系を報告した．本家系は3代にわたり4名の大腸癌患者が発生し．発端者の母は異時...
A HNPCC (Hereditary N onpolyposis Colo rectal Cancer) family with a germline mutation of mismatch repair gene was reported. Two base pair deletion was detected...
SourceID nii
jstage
SourceType Publisher
StartPage 26
SubjectTerms genetic testing, hMSH2
遺伝子診断, hMSH2
Title ミスマッチ修復遺伝子の胚細胞遺伝子変異が確認された遺伝性非ポリポーシス大腸癌の1家系
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Volume 2
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