Health Screening and Cancer Risk Management Guidelines for BRCA1 and BRCA2 Carriers

What are the Health Screening and Cancer Risk Management Guidelines 
for BRCA1 and BRCA2 Carriers?

The following is derived from NCCN Guidelines, Version 3.2024, BRCA-Pathogenic Positive Management. The National Comprehensive Cancer Network (NCCN) is a consortium of cancer centers with experts in management of hereditary cancer. The NCCN updates their guidelines for risk management for people with hereditary risk for cancer based on the latest research. In general, NCCN guidelines dictate the standard of cancer for high-risk patients in the United States. Visit them at nncn.org

WOMEN

• Breast awareness starting at age 18

• Clinical breast exam every 6-12 months, starting at age 25

• Annual breast MRI (magnetic resonance imaging) for people between the ages of 25 and 29 (breast MRI is preferred because of the theoretical risk of radiation exposure in mutation carriers)

• Annual breast MRI and Mammogram for people ages 30-74

• Age to begin breast MRI and mammography may be individualized if a breast cancer diagnosis in the family has occurred before age 30

• Age 75 and above, management on an individual basis

*Women please note: Although not an NCCN guideline, some providers clinically consider transvaginal ultrasound and CA-125 blood test monitoring. However, data does not support its efficacy. These two screening tests have not been proven effective in regularly identifying ovarian cancer.

RISK REDUCTION for WOMEN (non-surgical)

• Consultation with gynecologic oncologist or gynecologist with expertise in genetic susceptibility to gynecologic cancer recommended

• Consideration of oral contraceptive pills for ovulation suppression

• Levonorgestrel intrauterine device (LNG-IUD) has been shown to reduce risk for ovarian cancer in the average risk population

RISK REDUCTION for WOMEN (surgical)

• BRCA1: RRSO (risk-reducing salpingo-oophorectomy) between the ages of 35 and 40

• BRCA2: RRSO between the ages of 40 and 45 (unless age at diagnosis in the family warrants earlier age for consideration of prophylactic surgery)

• CA-125 and pelvic ultrasound are recommended for preoperative planning

• Discuss option of RRM (risk-reducing mastectomy)

• Consider risk reducing agents (medications) as options for breast cancer

MEN

• Breast self-exam at age 35

• Clinical breast exam, every 12 months, starting at age 35

• Consider annual mammograms age 50 or ten years before the earliest known male breast cancer in the family, whichever comes first

• Prostate cancer exam and PSA blood test every 12 months starting at age 40

• Starting ages may be individualized based on family history

FOR WOMEN AND MEN

• Individualized melanoma screenings based on cancers observed in the family - Annual full body skin exam - Melanoma eye exam - Minimize ultraviolet exposure

• For BRCA1 or BRCA2 positive families with a family history of pancreatic cancer, consider pancreatic screening beginning at age 50 (or 10 years younger than the earliest pancreatic cancer diagnosis in the family, whichever is earlier). Pancreas screening is recommended if there is pancreatic cancer diagnosed in a first or second degree relative on the same side of the family as the BRCA positive individual. EUS (endoscopic ultrasound) and abdominal MRI/MRCP are considered the most accurate tools for pancreatic imaging and do not involve ionizing radiation.

*Women and men please note: The ASGE (American Society for Gastrointestinal Endoscopy) recommends all individuals with a BRCA1 or BRCA2 mutation regardless of family history of pancreatic cancer, undergo annual screening for pancreatic cancer with MRI/MRCP or EUS beginning at age 50 (or 10 years earlier than the earliest pancreatic cancer in the family).

*Women and men please note: Some studies have suggested there may be an elevated risk for colorectal cancer in BRCA positive individuals. However, there is insufficient evidence to support a change in surveillance guidelines at this time. Enhanced colorectal surveillance is presently based on personal and family history of colorectal polyps, and colorectal cancer.

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NCCN Guidelines compiled by Amy Byer Shainman, @BRCAresponder and fact checked by a certified genetic counselor. These 2024 NCCN guidelines are included in the 2024 Audiobook Resurrection Lily The BRCA Gene, Hereditary Cancer & Lifesaving Whispers from the Grandmother I Never Knew by Amy Byer Shainman