With your patient, review the family history listed in the report to ensure it is correct. Discuss the patient's concerns and together decide on appropriate next steps.
The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with one of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing.
Grade: B Recommendation.
The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes.
Grade: D Recommendation.
The following genetic counseling and testing resources may be helpful to your patients at increased risk.
Being at increased risk for a BRCA gene mutation will likely affect follow-up clinical management. Women assessed as “not at increased risk for a BRCA gene mutation” may still have a family history and other risk factors that increase their risk for developing cancer and thus impact screening recommendations.
The following guidelines provide information on recommended screening for patients at increased risk for developing breast and ovarian cancers:
The following guidelines provide information on recommended screening for patients at average risk for developing breast and ovarian cancers:
Patients who decide to go through genetic counseling and testing will need a medical provider who will provide up-to-date information on screening and prophylactic options and help them determine a care path moving forward. For high-risk women (e.g. those with a gene mutation), these discussions about risk are best done by (or in consultation with) a specialist trained in management of people at high risk.
The following resources may help you to understand a patient’s BRCA1 or BRCA2 genetic testing results.
More data are needed to recommend the screening test for women who have other gene mutations found by a BRCA/BROCA panel or other DNA damage repair-Fanconi Anemia pathways panel, and also with BRCA a variant of unknown significance.
The following resources provide clinical information on treating patients with confirmed BRCA gene mutations:
Women at increased risk for BRCA gene mutation and those with a confirmed BRCA gene mutation face difficult decisions that can have serious medical, psychosocial, emotional, and financial impacts. Genetic specialists (e.g. certified genetic counselors, advanced practice nurses in genetics) have extensive training in psychological, social, emotional, and financial aspects of hereditary cancer, and they can help mutation carriers address these aspects.
The National Cancer Institute’s Genetics of Breast and Ovarian Cancer PDQ includes important information for providers on Psychosocial Issues in Inherited Breast Cancer Syndromes
The following organizations provide education and support resources for mutation carriers and young women at increased risk for breast and ovarian cancers: