Hereditary Cancer Risk Assessment
Since 2009, the American College of Obstetricians and Gynecologists has been recommending that hereditary cancer risk assessment should be available to all patients. In this evaluation, evaluation of cancer susceptibility, personal and family risk profiles and genetic testing may create a risk profile to reduce morbidity and mortality. The two major familial disease patterns in women are hereditary breast and ovarian cancer (HBOC) and hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Studies have suggested that nearly 10 percent of women have a personal or family history of hereditary or familial cancer, and 6 percent may meet the criteria for genetic testing. It is recommended that family history information should be part of the office visit and updated with each subsequent visit to identify individuals who may benefit from intensive screening or genetic testing. This information may help identify patients at risk for the individual’s benefit as well as the benefit of their entire family.
Hereditary Breast and Ovarian Cancer Syndrome
This syndrome accounts for approximately 10 percent of breast and ovarian cancers. It is produced by an autosomal dominant gene mutation in the tumor suppressor gene BRCA1 and BRCA2. The flags that are considered are personal and 3-generation family history of breast cancer that occurs under age 50, ovarian cancer of any age which is usually epithelial type, pancreatic cancer, melanoma, prostate cancer, a known BRCA mutation in the family, or ethnic backgrounds such as Ashkenazi Jewish, Dutch, Icelandic, Mexican or Hungarian. Assessment tools have been developed for physicians to help determine if genetic counseling and testing would be indicated. Talk with your physician about whether you might be at risk.
What is the impact of having been diagnosed with carrying the BRCA mutation?
- Women are at higher risk of developing breast cancer – a 40-80 percent risk during their lifetime – occurring before age 50 usually.
- Women are at higher risk of developing ovarian cancer – 10-40 percent risk during their lifetime.
- Men in the family that carry the BRCA mutation are at a higher risk of developing breast or prostate cancer.
Hereditary Nonpolyposis Colorectal Cancer Syndrome (Lynch syndrome)
Approximately 20 percent of colon and endometrial cancers diagnosed are associated with a family history and 5 percent of these have the gene mutation associated with Lynch syndrome. The flags to monitor include colorectal or endometrial cancer before age 50, colorectal cancer in greater than two generations on the same side of the family, ovarian or gastric cancer at any age, known carriers of the gene mutation, and two or more family members with any 2 Lynch cancers – colon, endometrial, ovarian, gastric, brain, biliary, pancreatic, small bowel or kidney.
What is the impact of being diagnosed with carrying the Lynch syndrome gene mutation?
- Women with the mutation carry a 60 percent risk of developing colon cancer and a 50-60 percent risk of developing endometrial cancer in their lifetime.
- Men with the mutation carry an 80 percent risk of developing colon cancer in their lifetime.
- These risks are compared to a 5 percent risk of developing colon cancer and 2 percent risk of endometrial cancer in the general population without the gene mutation.
If you have a family history of ovarian, breast, endometrial or colon cancers, discuss these with your physician and be aware of the availability of genetic counseling and testing. Be proactive about your health.