Abstract
Of all women with ovarian cancer, 20% have a family history of ovarian cancer and 8% carry a germline mutation. Hereditary ovarian cancer is defined as clustering of three or more cases of ovarian cancer or a total of four or more early-onset (younger than 60), breast or ovarian cancers at any age. Population studies and detailed analyses of familial ovarian cancer pedigrees indicate the existence of the breast and ovarian cancer syndrome, in which multiple members of the family are affected by breast or ovarian cancer, or both. Positional cloning helps in identification of breast or ovarian cancer susceptibility genes namely BRCA1 and BRCA2. These genes function as tumor suppressor genes and are implicated in mechanisms of DNA repair. However, germline mutations in BRCA1 and BRCA2 are responsible for majority of hereditary ovarian cancers. Loss of BRCA1 or BRCA2 function in patients with germline mutations results in loss of the wildtype allele and thus confers a variable lifetime risk of ovarian carcinoma.
Original language | English |
---|---|
Title of host publication | Diagnosis and Management of Ovarian Disorders, Second Edition |
Publisher | Elsevier |
Pages | 201-208 |
Number of pages | 8 |
ISBN (Electronic) | 9780120536429 |
DOIs | |
State | Published - Jan 1 2003 |
Externally published | Yes |