BRCA2 gene

Associated Syndrome Name: Hereditary Breast and Ovarian Cancer syndrome (HBOC)

BRCA2 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
BreastHigh Risk
Male BreastHigh Risk
OvarianHigh Risk
PancreaticHigh Risk
ProstateHigh Risk
SkinElevated Risk

BRCA2 gene Overview

Hereditary Breast and Ovarian Cancer syndrome (HBOC) 1, 2
  • Individuals with mutations in BRCA2 have Hereditary Breast and Ovarian Cancer syndrome (HBOC).
  • Women with HBOC have a risk for breast cancer that is greatly increased over the 12.5% lifetime risk for women in the general population of the United States.
  • Women with HBOC also have high risks for ovarian, fallopian tube, and primary peritoneal cancer.
  • Men with HBOC due to mutations in BRCA2 have a high risk for breast cancer and prostate cancer. The increase in prostate cancer risk is most significant at younger ages. Additionally, men with a BRCA2 mutation have a higher risk for an aggressive prostate cancer.
  • Male and female patients with HBOC due to a mutation in BRCA2 also have a high risk for exocrine pancreatic cancer. These are cancers developing in the enzyme-secreting cells of the pancreas.
  • Male and female patients with HBOC due to mutations in BRCA2 also have an elevated risk for melanomas of both the skin and eyes.
  • Although there are high cancer risks for patients with HBOC, there are interventions that have been shown to be effective at reducing many of these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) for the medical management of patients with HBOC are listed below. It is recommended that patients with BRCA2 mutations and a diagnosis of HBOC be managed by a multidisciplinary team with experience in the prevention and treatment of the cancers associated with HBOC.

BRCA2 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
Female BreastTo age 503, 4, 5, 623%-35%2.0%
To age 703, 5, 6, 743%-84%7.4%
Second primary within 5 years of first breast cancer diagnosis4, 8, 9, 103.9%-12%2%
OvarianTo age 503, 5, 6, 70.4%-4%0.2%
To age 703, 4, 5, 615%-27%0.6%
Ovarian cancer within 10 years of a breast cancer diagnosis10, 116.8%<1.0%
PancreaticTo age 806, 12, 137%, or higher if there is a family history of pancreatic cancer.1.1%
Male BreastTo age 706, 146.8%<0.1%
ProstateTo age 706, 15, 1620%6.1%
MelanomaTo age 806, 17, 18Elevated risk for melanomas of both the skin and eye1.7%

BRCA2 Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
Female BreastBreast awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-examination (BSE) may facilitate breast awareness.218 yearsNA
Clinical breast examination225 yearsEvery 6 to 12 months
Breast MRI with contrast and/or mammography with consideration of tomosynthesis2Age 25 for MRI, or if MRI is unavailable, mammography with consideration of tomosynthesis. Age 30 for both MRI and mammography. Individualize to a younger age if a relative has been diagnosed younger than age 30.Annually
Consider investigational screening studies within clinical trials.2IndividualizedNA
Consider risk-reducing mastectomy.2IndividualizedNA
Consider options for breast cancer risk-reduction agents (i.e. tamoxifen).2IndividualizedNA
OvarianBilateral salpingo-oophorectomy235 to 45 years, upon completion of childbearingNA
Consider transvaginal ultrasound and CA-125 measurement. Consider investigational screening studies within clinical trials.230 to 35 yearsIndividualized
Consider options for ovarian cancer risk-reduction agents (i.e. oral contraceptives).2, 24IndividualizedNA
PancreaticFor patients with a family history of pancreatic cancer, consider available options for pancreatic cancer screening, including the possibility of endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in screening for pancreatic cancer, preferably within research protocols.13Age 50, or 10 years younger than the earliest age of pancreatic cancer diagnosis in the familyAnnually
Provide education about ways to reduce pancreatic cancer risk, such as not smoking and losing weight.23IndividualizedIndividualized
Male BreastBreast self-examination235 yearsMonthly
Clinical breast examination235 yearsAnnually
Consider mammography in men with gynecomastia (enlarged breasts)250 years, or 10 years earlier than the youngest male breast cancer diagnosis in the familyAnnually
ProstateRecommend prostate cancer screening.1, 240 years, or 10 years younger than the earliest prostate cancer diagnosis in the familyAnnually, or adjusted based on results from first PSA screen
Since mutation carriers are at an increased risk for more aggressive prostate cancer this information may be included as part of the risk and benefit discussion about prostate cancer screening.1, 25NANA
Since mutation carriers are at an increased risk for more aggressive prostate cancer this information may be considered when choosing management options for men with a diagnosis of prostate cancer.1, 25NANA
MelanomaWhole-body skin and eye examinations, and education about minimizing exposure to UV radiation.2IndividualizedAnnually
For Patients With A Cancer DiagnosisFor patients with a gene mutation and a diagnosis of cancer, targeted therapies may be available as a treatment option for certain tumor types (e.g., platinum chemotherapy, PARP-inhibitors)19, 20, 21, 22, 23NANA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the BRCA2 gene.

This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.

In rare instances, an individual may inherit mutations in both copies of the BRCA2 gene, leading to the condition Fanconi Anemia, Complementation Group D1 (FANCD1). This condition is rare and includes physical abnormalities, growth retardation, progressive bone marrow failure and a high risk for cancer. The children of this patient are at risk of inheriting FANCD1 only if the other parent is also a carrier of a BRCA2 mutation. Screening the other biological parent of any children for BRCA2 mutations may be appropriate.26

Parents who are concerned about the possibility of passing on a BRCA2 mutation to a future child may want to discuss options for prenatal testing and assisted reproduction techniques, such as pre-implantation genetic diagnosis (PGD).2


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Last Updated on 29-Sep-2022