ICARE Social Media Post April 2020

BRCA2: Cancer Risks and Risk Management

Gene: BRCA2

Cancer Risks and Management (per NCCN version 3.2019):

Women:

Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy.

Ovarian cancer risk: Up to 27% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) between ages 40 and 45.

Men and Women:

Pancreatic cancer risk: Elevated – Consider MRI/MRCP or endoscopic ultrasound for BRCA2 carriers with a family history of pancreatic cancer in first-degree relative.

Men:

Breast cancer risk: Breast cancer risk: Elevated at 6%-8% – Recommend annual clinical breast exams starting at age 35.

Prostate cancer risk: Up to 20% – Recommend PSA screening and digital rectal exam starting at age 40.

Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have a BRCA2 mutation, the child is at risk for autosomal recessive Fanconi anemia.

Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.

Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.

Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf

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