Gynecologic Manifestations of Hereditary Nonpolyposis Colorectal Cancer
نویسندگان
چکیده
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer susceptibility syndrome associated with inherited defects in the DNA mismatch repair system. HNPCC family members are at high risk for developing colorectal, endometrial, and ovarian cancers. Studies of HNPCC families have helped define the important role that mismatch repair genes play in the molecular pathogenesis of endometrial and ovarian cancers. This review will describe some of the important clinical and molecular features of HNPCC-related endometrial and ovarian cancer and describe how genetic susceptibility can be identified in patients with sporadic endometrial and ovarian cancers. It is important to identify patients with HNPCC, as families of mutation carriers may benefit from genetic counseling, testing, and intensified cancer surveillance.
منابع مشابه
Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
متن کامل
Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series
INTRODUCTION Hereditary nonpolyposis colorectal cancer is a colorectal cancer syndrome characterized by the development of colorectal cancer and extracolonic tumors, and this syndrome has an autosomal dominant mode of inheritance. To our knowledge, our study was the first to find dento-osseous anomalies and the second to observe Fordyce granules in a family with individuals with hereditary nonp...
متن کاملHereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...
متن کاملWomen with HNPCC: a target population for the chemoprevention of gynecologic cancers.
Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is an autosomal-dominant inherited cancer susceptibility syndrome that is associated with increased risk of development of endometrial and ovarian cancers. Therefore, women with HNPCC are candidates for chemoprevention of gynecological cancers. Although there have been a number of clinical trials examining chemoprevention strategies for...
متن کاملSociety of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions.
Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast & Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk of ovarian, tubal, and peritoneal cancers. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associated with the Lynch/Hereditary No...
متن کامل