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

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)269-273
Number of pages5
JournalJournal of the Formosan Medical Association
Issue number4
Publication statusPublished - Apr 2001
Externally publishedYes


  • Colorectal cancer
  • DNA mismatch repair gene
  • Gynecologic malignancy
  • Hereditary nonpolyposis
  • Taiwan

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: Report of two families in Taiwan'. Together they form a unique fingerprint.

Cite this