Primary care clinician risk assessment for hereditary breast cancer

Breast cancer may be caused by a genetic mutation or a predisposed genetic link in a woman’s DNA.
Breast cancer may be caused by a genetic mutation or a predisposed genetic link in a woman’s DNA.

Because of early detection and more effective treatment regimens, the number of women living with breast cancer in the United States has increased to approximately 2.8 million.1 Although it does occur in men, breast cancer is the most common cancer in women, irrespective of a woman's race or ethnicity. Based on current rates of breast cancer incidence, approximately one in every eight women born today will be diagnosed with breast cancer during her lifetime. 


Treatment of breast cancer has steadily improved in the 21st century. These improvements have been accomplished through advances in breast imaging, recognition and identification of germline mutations, and evidence-based interventions, including risk-reducing medications and lifestyle changes. 


Primary care clinicians should complete a hereditary cancer risk assessment at each patient visit. Although cancer risk assessment may be unfamiliar to many primary care clinicians, it is incumbent on them to be proficient and thorough in this type of evaluation. These practices should include recognition of familial disease patterns suggestive of inherited susceptibility to breast cancer, risk assessment, referral to genetic counseling and testing, and interpretation of these results into practice.


Evaluating family history


Evaluation of family history is one of the most effective and least expensive tools to identify individuals at increased risk for breast cancer, and yet many providers do not adequately assess their patients' familial and genetic risk of developing breast cancer. All breast cancers are genetic, but not all breast cancers are hereditary; breast cancer can be attributed to sporadic, familial, or genetic causes. 


Approximately 5% to 10% of breast cancers can be linked to genetic mutations from the maternal or paternal side; a woman's risk of breast cancer approximately doubles if she has a first-degree relative who has been diagnosed with the disease.2 Sporadic breast cancer can be partly explained by known risk factors such as age at menarche, age at first live birth, age at menopause, history of proliferative breast disease, and lifestyle factors. 


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