Cancer Risk Assessment Judith A Westman MD Clinical Director Division of Human Genetics
Cancer risk assessment is a multi-step process Provide post-test counseling and follow-up Identify hereditary risk patients Provide risk assessment Provide informed consent Select and offer test Disclose results
“ Cancer on the father’s side of the family doesn’t count.”
“ Ovarian cancer in the family history is not a factor in breast cancer risk.”
“ The most important thing in the family history is the number of women with breast cancer.”
Misconceptions about family history
Half of all women with hereditary risk inherited it from their father.
Ovarian cancer is an important indicator of hereditary risk, although it is not always present.
Age of onset of breast cancer is more important than the number of women with the disease.
Hereditary Breast and Ovarian Cancer Sporadic Hereditary BRCA1 (62%) Other genes (16%) BRCA2 (32%) 7-10%
Features that indicate increased likelihood of having BRCA mutations
Multiple cases of early onset breast cancer
Ovarian cancer (with family history of breast or ovarian cancer)
Breast and ovarian cancer in the same woman
Bilateral breast cancer
Ashkenazi Jewish heritage
Male breast cancer
BRCA1 -Associated Cancers: Lifetime Risk ASCO Possible increased risk of other cancers (eg, prostate, colon) Breast cancer 50% 85% (often early age at onset) Second primary breast cancer 40% 60% Ovarian cancer 15% 45%
BRCA1 -Linked Hereditary Breast and Ovarian Cancer ASCO BRCA1 -mutation carrier Breast, dx 59 Noncarrier Affected with cancer Breast, dx 45 d. 89 92 86 73 68 Ovary, dx 59 d. 62 71 Breast, dx 36 36
BRCA2 -Associated Cancers: Lifetime Risk ASCO Increased risk of prostate, laryngeal, and pancreatic cancers (magnitude unknown) breast cancer (50% 85%) ovarian cancer (10% 20%) male breast cancer (6%)
Clinical Management of BRCA Mutation-Positive Patient Positive BRCA1 or BRCA2 test result Possible testing for other adult relatives Increased surveillance Prophylactic surgery Lifestyle changes Chemo- prevention ASCO