Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: Report of two families in Taiwan

Chi Huang Chen, Rui-Lan Huang, Mu Shien Yu, Lee Jun C Wong, Trong Fei Chao, Tang Yuan Chu

研究成果: 雜誌貢獻文章

7 引文 (Scopus)

摘要

Hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome, is characterized by germline and somatic mutations of DNA mismatch repair genes with dominant inheritance of site-specific colorectal cancer or colorectal cancer plus cancers of extracolonic sites. We describe two Taiwanese HNPCC families with members who had predominantly gynecologic malignancies. In one family, the 53-year-old proband was found to have five synchronous and metachronous tumors of the genitourinary system, which included endometrial adenocarcinoma, cervical squamous cell carcinoma, ureteral and bladder transitional cell carcinoma, and ovarian teratoma. Fourteen of her first- and second-degree relatives were victims of genitourinary and gastrointestinal malignancies. The other family was characterized by four sisters who developed endometrial adenocarcinomas at young ages (36-42 yr). Their father died of both stomach cancer and colon cancer at age 47. The diagnosis of HNPCC was confirmed in this family by genetic analysis. A heterozygous germline mutation (G5 to G6 frame-shift at 183-187) of the hMSH2 (human MutS homolog 2) gene was identified in white blood cells of all the affected family members. The frequent presentation of genitourinary cancers in HNPCC highlights the importance of family-history taking in patients with gynecologic cancers and a genetic diagnosis of HNPCC.
原文英語
頁(從 - 到)269-273
頁數5
期刊Journal of the Formosan Medical Association = Taiwan yi zhi
100
發行號4
出版狀態已發佈 - 四月 2001
對外發佈Yes

指紋

Hereditary Nonpolyposis Colorectal Neoplasms
Taiwan
Neoplasms
Germ-Line Mutation
Colonic Neoplasms
Colorectal Neoplasms
Adenocarcinoma
Urogenital Neoplasms
Urogenital System
Dominant Genes
DNA Mismatch Repair
Transitional Cell Carcinoma
Fathers
Stomach Neoplasms
Siblings
Squamous Cell Carcinoma
Urinary Bladder
Leukocytes

ASJC Scopus subject areas

  • Medicine(all)

引用此文

Hereditary nonpolyposis colorectal cancer with gynecologic malignancies : Report of two families in Taiwan. / Chen, Chi Huang; Huang, Rui-Lan; Yu, Mu Shien; Wong, Lee Jun C; Chao, Trong Fei; Chu, Tang Yuan.

於: Journal of the Formosan Medical Association = Taiwan yi zhi, 卷 100, 編號 4, 04.2001, p. 269-273.

研究成果: 雜誌貢獻文章

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abstract = "Hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome, is characterized by germline and somatic mutations of DNA mismatch repair genes with dominant inheritance of site-specific colorectal cancer or colorectal cancer plus cancers of extracolonic sites. We describe two Taiwanese HNPCC families with members who had predominantly gynecologic malignancies. In one family, the 53-year-old proband was found to have five synchronous and metachronous tumors of the genitourinary system, which included endometrial adenocarcinoma, cervical squamous cell carcinoma, ureteral and bladder transitional cell carcinoma, and ovarian teratoma. Fourteen of her first- and second-degree relatives were victims of genitourinary and gastrointestinal malignancies. The other family was characterized by four sisters who developed endometrial adenocarcinomas at young ages (36-42 yr). Their father died of both stomach cancer and colon cancer at age 47. The diagnosis of HNPCC was confirmed in this family by genetic analysis. A heterozygous germline mutation (G5 to G6 frame-shift at 183-187) of the hMSH2 (human MutS homolog 2) gene was identified in white blood cells of all the affected family members. The frequent presentation of genitourinary cancers in HNPCC highlights the importance of family-history taking in patients with gynecologic cancers and a genetic diagnosis of HNPCC.",
keywords = "Colorectal cancer, DNA mismatch repair gene, Gynecologic malignancy, Hereditary nonpolyposis, Taiwan",
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AB - Hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome, is characterized by germline and somatic mutations of DNA mismatch repair genes with dominant inheritance of site-specific colorectal cancer or colorectal cancer plus cancers of extracolonic sites. We describe two Taiwanese HNPCC families with members who had predominantly gynecologic malignancies. In one family, the 53-year-old proband was found to have five synchronous and metachronous tumors of the genitourinary system, which included endometrial adenocarcinoma, cervical squamous cell carcinoma, ureteral and bladder transitional cell carcinoma, and ovarian teratoma. Fourteen of her first- and second-degree relatives were victims of genitourinary and gastrointestinal malignancies. The other family was characterized by four sisters who developed endometrial adenocarcinomas at young ages (36-42 yr). Their father died of both stomach cancer and colon cancer at age 47. The diagnosis of HNPCC was confirmed in this family by genetic analysis. A heterozygous germline mutation (G5 to G6 frame-shift at 183-187) of the hMSH2 (human MutS homolog 2) gene was identified in white blood cells of all the affected family members. The frequent presentation of genitourinary cancers in HNPCC highlights the importance of family-history taking in patients with gynecologic cancers and a genetic diagnosis of HNPCC.

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