One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer

Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer. Among BRCA1- and BRCA2- mutation carriers, the average cumulative risks for ovarian cancer by age 70 years were 39% and 11%, respectively. There are other hereditary cancer syndromes such as Hereditary nonpolyposis colorectal cancer also confer a higher risk for developing ovarian cancer, but over 90% of all hereditary ovarian cancers are thought to be associated with BRCA1 or BRCA2 mutations. This report concerns a Korean woman diagnosed with ovarian cancer present with a family history of ovarian and various other cancers, in whom a germline BRCA1 mutation was identified and the same mutation was found in one of two daughters of her's. Since there could be more hereditary ovarian cancer patients in Korean than clinicians thought, both primary and secondary prevention of ovarian cancer based on family history and genetic information is important to reduce cancer incidence and mortality.

Clinical approach of hereditary cancer in gynecology / 대한산부인과학회지

Hereditary cancer syndrome is a genetic condition that causes and increases the risk for specific type of cancers. Recent advances in genetics have identified a number of genes associated with inherited susceptibility to cancer, and this rapid development of knowledge about cancer genetics have implications for all aspects of cancer management, including prevention, screening, and treatment. Hereditary patterns of cancer are often characterized by early age at onset, high penetrance, bilaterality in paired organs, vertical transmission through either parent, and an association with other types of tumors. Most representative hereditary cancer syndromes in gynecologic field are hereditary breast/ovarian cancer syndrome (HBOC), hereditary non-polyposis colorectal cancer (HNPCC), Li-Fraumeni syndrome, and Cowden syndrome. Several familial mutations of specific genes, such as BRCA1, 2, TP53, PTEN, MMR, CHEK2, are linked to hereditary cancer syndrome, which are responsible for hereditary gynecologic cancers. It would be very important for gynecologic doctors to know the inclusion criteria for the genetic assessment, taking family history, clinical evaluation, genetic testing, screening guideline and risk reduction strategies for women with hereditary high risk factor. The morbidity and mortality of gynecologic malignancies related to these syndromes could be reduced by the adequate clinical approach, although recent guidelines were developed with an acute awareness of the preliminary nature of much of our knowledge regarding the clinical application of the rapidly emerging field of molecular genetics, and with an appreciation for the need for flexibility when applying these guidelines to individual families.