Which of the following genes has been MOST closely associated with familial cases of ovarian cancer?
Correct Answer: BRCA1
Description: Roughly 5-10% of cases of ovarian cancer occur in individuals who are a member of a cancer family. In familial cases of ovarian cancer, the cancers tend to appear at a younger age, but are thought to possibly have, on an average, a slightly better prognosis than do isolated cases. Families with multiple cases of breast cancer due to genetic mutations in BRCA1 or BRCA2 also have an increased incidence of ovarian cancers. The BRCA1 mutation is paicularly virulent, and up to 30-40% of women with this mutation develop ovarian cancer. (There are also families in which the women have a BRCA1 mutation and develop ovarian, but not breast cancer at an increased rate). Another cancer syndrome, the Lynch II syndrome (also known as the hereditary nonpolyposis colorectal cancer syndrome), is also associated with ovarian cancer (and cancers of the uterus, breast, stomach, and pancreas). In both the breast cancer families and the Lynch II families, the genetic pattern seen is usually autosomal dominant with variable penetrance. Prophylactic oophorectomy is often offered women in cancer families who have reached the age of 35 and have had their children. Note: NF2 is associated with neurofibromatosis type II, acoustic neuromas, and meningiomas. VHL is associated with Von Hippel-Lindau disease, renal cell carcinoma, and pheochromocytoma. WT1 is associated with Wilms tumor. Ref: Molecular Diagnostics by by William B. Coleman, Page 362
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Gynaecology & Obstetrics
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