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Genetics

Almost everyone you talk to has a close or distant family member who has had a cancer diagnosis. Sporadic cases of different types of cancer are common. However, in some families there can be a trend for many family members to be affected by the same type or cluster of cancers. This may be called a “hereditary cancer”. This means that there may be an abnormal gene or gene mutation that could be passed down from one generation to the next.  Fewer than 10% of all cancers are related to a hereditary gene mutation.

Ovarian

Most ovarian cancers are NOT hereditary. Up to 10-20% of high grade serous ovarian (fallopian tube or primary peritoneal) cancers may be related to an inherited gene mutation in specific genes (the BRCA 1 or BRCA 2). This syndrome is called Hereditary Breast / Ovarian Cancer Syndrome.  Women with these subtypes of ovarian cancer are eligible for genetic counseling and testing.

Chances of having a hereditary ovarian cancer are higher if your family history includes:

  • Another woman with ovarian (fallopian tube or primary peritoneal) cancer
  • A breast cancer diagnosis in close relatives at a young age
  • Ashkenazi Jewish heritage, Icelandic heritage, or some French Canadian heritage

Endometrial / Uterine

Most endometrial cancers are NOT hereditary. Up to 10% can be part of a hereditary syndrome known as “Lynch syndrome”, also referred to as “HNPCC”. Lynch syndrome is the result of an inherited abnormal mismatch repair gene that results in a more frequent diagnosis of colon cancer and endometrial cancer in those families.  Families with Lynch syndrome can also have more frequent cancers of the urinary tract, small bowel and pancreas.

Genetic testing for Lynch syndrome may be offered if your family history includes:

  • Other women with an endometrial cancer diagnosis
  • Many close relatives with colorectal and/or related cancers

Genetic testing for hereditary cancers is done by completing an extensive family health history, counseling regarding personal risk, and a blood test.  For some patients, preliminary tumor testing may be performed.  If you are found to be positive for carrying one of these gene mutations, other family members may be offered testing to assess their risk and provide suggestions about appropriate ways for cancer risk reduction. This information may also be helpful in streamlining effective cancer treatment options.

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