Approximately 15% of ovarian cancers are thought to be related to genetic factors although new research suggests that it may be an even higher amount. There are 2 main types of hereditary ovarian cancer, those due to mutations in BRCA1/2 genes and those due to mutations in DNA repair genes (Lynch Syndrome)
Families with mutations in BRCA1/2 have a very high incidence of breast cancer, over 80% if you have a mutation in these genes. The risk of ovarian cancer and fallopian tube cancer is 15-50%. BRCA2 mutations also increase the risk of male breast cancer and pancreatic cancer.
Families with Lynch Syndrome are at an increased risk of colon cancer, endometrial cancer, and ovarian cancer.
With any hereditary cancer it is important to remember that you get half of your genes from your mom and half from your dad. So women can inherit a gene from their father that could put them at risk for a breast or gynecologic cancer.
It is important to share your family history of cancer and other diseases with your doctor.
If you have a personal or strong family history (mother, sister, daughter, aunt, grandmother or daughter) of the following cancers you may have a 50% life time risk developing ovarian cancer:
- Breast (premenopausal)-Hereditary Breast and Ovarian Cancer Syndrome
- Colon/rectal, uterus, stomach, small intestine, pancreas, kidney/urinary or biliary-Lynch syndrome
Somatic mutations may occur by chance, as a result of the aging process or due to environmental and lifestyle exposures. In contrast, germline mutations are inherited from a parent at the time of conception and are present in every cell of the body. Only a small portion of all cancers occur in individuals who carry an inherited mutation that predisposes them to develop cancer. Germline mutations in specific tumor suppressor genes and DNA mismatch repair genes have been associated with numerous hereditary cancer syndromes.
The hereditary cancer susceptibility genes that have been identified so far are highly penetrant, meaning that mutations lead to a greater risk of developing cancer. Since cancer is a multi-step process, the presence of a germline mutation makes a person essentially “one step closer” to cancer from the time of birth than the average person, thereby increasing the chance of early-onset cancer and multiple primary cancers. Although a significant risk factor, a germline mutation does not guarantee that cancer will develop. The likelihood that an individual who inherits a mutation will ultimately develop cancer depends on other factors that influence the occurrence of subsequent mutations, such as modifier genes and poorly understood diet, lifestyle and environmental factors.
Approximately only 5%–10% of ovarian cancers are due to inherited genetic mutations. Epithelial ovarian cancer (EOC) most commonly occurs in a sporadic fashion without a history of familial disease. Epidemiologic factors associated with EOC include nulliparity, personal history of colon or breast cancer, affected 1st-degree relatives with EOC, or a family history of a recognized inherited malignancy syndrome.
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