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BRCA1 and BRCA2 Gene Mutations
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Hereditary Breast and Ovarian Cancer syndrome (HBOC) BRCA1 AND BRCA2 ASSOCIATED CANCER RISKS
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View All Associated Syndromes
Hereditary Breast and Ovarian Cancer syndrome (HBOC)
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
MUTYH-associated Polyposis syndrome (MAP)
MUTYH-associated Colon Cancer Risk
Melanoma Cancer Syndrome (MCS)
Li-Fraumeni Syndrome (LFS)
PTEN Hamartoma Tumor syndrome (PHTS)
Peutz-Jeghers Syndrome
Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
Juvenile Polyposis Syndrome (JPS)
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
PALB2-associated Cancer Risk
CHEK2-associated Cancer Risk
ATM-associated Cancer Risk
NBN-associated Cancer Risk
BARD1-associated Cancer Risk
BRIP1-associated Cancer Risk
RAD51C-associated Cancer Risk
RAD51D-associated Cancer Risk
Polymerase Proofreading-associated Syndrome (PPAS)
Hereditary Mixed Polyposis Syndrome (HMPS)
View All Associated Genes
MLH1, MSH2, MSH6, PMS2, or EPCAM Gene Mutations
APC Gene Mutations
MUTYH gene mutations
CDKN2A (p16INK4a) Gene Mutations
CDKN2A (p14ARF) and CDK4 Gene Mutations
TP53 Gene Mutations
PTEN Gene Mutations
STK11 Gene Mutations
CDH1 Gene Mutations
BMPR1A Gene Mutations
SMAD4 Gene Mutations
PALB2 Gene Mutations
CHEK2 Gene Mutations
ATM Gene Mutations
NBN Gene Mutations
BARD1 Gene Mutations
BRIP1 Gene Mutations
RAD51C Gene Mutations
RAD51D Gene Mutations
BRCA1 AND BRCA2 ASSOCIATED CANCER RISKS
ENDOMETRIAL
What does it mean to have a BRCA1 or BRCA2 gene mutation, and a diagnosis of Hereditary Breast and Ovarian Cancer syndrome (HBOC)?
Hereditary Breast and Ovarian Cancer syndrome (HBOC) is caused by mutations in one of two genes: BRCA1 or BRCA2. Women with HBOC have a high risk for both breast and ovarian cancer. Men with HBOC have an increased risk for breast cancer and prostate cancer. Both men and women with HBOC may have an increased risk for melanoma and pancreatic cancer. Sometimes, these cancers can develop at young ages.
The exact cancer risks and medical management guidelines for people with HBOC differ slightly depending on whether HBOC is caused by a BRCA1 or a BRCA2 gene mutation.
What can be done to protect people with HBOC from cancer?
The National Comprehensive Cancer Network (NCCN) provides recommendations for lowering the risk of cancer in men and women with HBOC. These recommendations include special screening for the cancers with high risks. This can mean starting screening at younger ages than typically recommended, performing the screenings more often and using more sensitive technologies. For example, women with HBOC should begin breast screening in their 20's, and they should have MRIs in addition to, or instead of, mammograms. The risk of breast cancer in women with HBOC is very high, and in some cases it may even be reasonable to consider surgery to remove the breasts before cancer can develop.
It is difficult to screen for ovarian cancer, and women with HBOC have a high risk of developing this cancer. Therefore, NCCN recommends that women with HBOC have surgery to remove their ovaries and fallopian tubes between 35 and 40 years, or after they have finished having children.
Men with HBOC should begin breast screening exams done by their doctors beginning in their 30's. In some cases, mammograms may also be recommended. Men should talk to their doctors and other healthcare providers about screening for prostate cancer.
Screening for pancreatic cancer is more likely to be recommended for men and women who have HBOC and have a history of pancreatic cancer in their family. Currently, pancreatic cancer screening is mostly performed in research settings.
Additional details about BRCA1 and BRCA2 gene mutations and HBOC, including information about the risks for different kinds of cancer, specific recommendations for medical care, and useful information for relatives of people who have a diagnosis of HBOC, are available within our Support Organizations pages.
BRCA1 Gene
Associated Syndrome Name: Hereditary Breast and Ovarian Cancer syndrome (HBOC)
BRCA1 Summary Cancer Risk Table
Genetic Cancer Risk
Female Breast High Risk
Ovarian High Risk
Male Breast Elevated Risk
Pancreatic Elevated Risk
Prostate Elevated Risk
BRCA1 gene Overview
Hereditary Breast and Ovarian Cancer syndrome (HBOC) 1, 2
Individuals with mutations in BRCA1 have a condition called 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 BRCA1 have an elevated risk for breast and prostate cancer. The increased risk for prostate cancer may be most significant at younger ages. Additionally, men with a BRCA1 mutation have a higher risk for an aggressive prostate cancer.
Male and female patients with HBOC due to mutations in BRCA1 have an elevated risk for pancreatic cancer.
Women with HBOC due to mutations in BRCA1 may have an elevated risk for serous uterine cancer, but the data are not conclusive.
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 BRCA1 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.
BRCA1 gene Cancer Risk Table
Risk for General Population
Female Breast To age 503, 4, 5, 6 28%-51% 1.9%
To age 704, 5, 6, 7 46%-87% 7.1%
Second primary within 5 years of first breast cancer diagnosis8, 9, 10 13%-20% 2%
Ovarian To age 503, 5, 6, 8 8%-23% 0.2%
Ovarian cancer within 10 years of a breast cancer diagnosis10, 11 12.7% <1.0%
Prostate To age 706, 12, 13 Up to 16% 6.6%
Male Breast To age 706, 14 1.2% <0.1%
Pancreatic To age 806, 15 Elevated risk 1%
BRCA1 Cancer Risk Management Table
The overview of medical management options provided is a summary of professional society guidelines as of the last Myriad update shown on this page. The specific reference provided (e.g., NCCN guidelines) should be consulted for more details 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.
Age to Begin
(Unless otherwise indicated by findings)
Female Breast Breast 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.2 18 years NA
Clinical breast examination2 25 years Every 6 to 12 months
Breast MRI with contrast and/or mammography with consideration of tomosynthesis2 Age 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.2 Individualized NA
Consider risk-reducing mastectomy.2 Individualized NA
Consider options for breast cancer risk-reduction agents (i.e. tamoxifen).2 Individualized NA
Ovarian Bilateral salpingo-oophorectomy, including discussion of hysterectomy considering the possible increased risk for serous uterine cancer2 35 to 40 years, upon completion of childbearing NA
Consider transvaginal ultrasound and CA-125 measurement. Consider investigational screening studies within clinical trials.2 30 to 35 years Individualized
Consider options for ovarian cancer risk-reduction agents (i.e. oral contraceptives).2, 24 Individualized NA
Prostate Consider prostate cancer screening.1, 2 45 years Individualized
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, 16 NA NA
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, 16 NA NA
Male Breast Breast self-examination2 35 years Monthly
Clinical breast examination2 35 years Annually
Pancreatic For 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 the screening for pancreatic cancer, preferably within research protocols.22, 23 Age 50, or 10 years younger than the earliest age of pancreatic cancer diagnosis in the family Annually
Provide education about smoking cessation to reduce pancreatic cancer risk22 Individualized Individualized
For Patients With A Cancer Diagnosis For 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)16, 17, 18, 19, 20, 21 NA NA
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 BRCA1 gene.
A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.
Parents who are concerned about the possibility of passing on a BRCA1 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
Giri VN, et al. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. J Clin Oncol. 2018 36:414-424. PMID: 29236593.
Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V 2.2019. July 30. Available at http://www.nccn.org.
Easton DF, et al. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995 56:265-71. PMID: 7825587.
Mavaddat N, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013 105:812-22. PMID: 23628597.
Chen S, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006 24:863-71. PMID: 16484695.
Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
Ford D, et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 343:692-5. PMID: 7907678.
Kuchenbaecker KB, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017 317:2402-2416. PMID: 28632866.
Verhoog LC, et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet. 1998 351:316-21. PMID: 9652611.
Curtis RE, et al. New Malignancies Following Breast Cancer. 2006 In: Curtis RE, et al., editors. New Malignancies Among Cancer Survivors: SEER Cancer Registries, 1973-2000. National Cancer Institute. NIH Publ. No. 05-5302.
Metcalfe KA, et al. The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol. 2005 96:222-6. PMID: 15589605.
Struewing JP, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997 336:1401-8. PMID: 9145676.
Liede A, et al. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004 22:735-42. PMID: 14966099.
Tai YC, et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007 99:1811-4. PMID: 18042939.
Lynch HT, et al. BRCA1 and pancreatic cancer: pedigree findings and their causal relationships. Cancer Genet Cytogenet. 2005 158:119-25. PMID: 15796958.
Mohler JL, et al. NCCN Clinical Practice Guidelines in Oncology®: Prostate Cancer. V 4.2018. August 15. Available at http://www.nccn.org.
Armstrong DK, et al. NCCN Clinical Practice Guidelines in Oncology®: Ovarian Cancer. V 2.2018. March 9. Available at http://www.nccn.org.
https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/208558s002lbl.pdf
Tempero MA, et al. NCCN Clinical Practice Guidelines in Oncology®: Pancreatic Adenocarcinoma. V 2.2018. July 10. Available at http://www.nccn.org.
Gradishar WJ et al. NCCN Clinical Practice Guidelines in Oncology®: Breast Cancer. V 1.2018. March 20. Available at http://www.nccn.org.
Syngal S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 110:223-62. PMID: 25645574.
Canto MI, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 62:339-47. PMID: 23135763.
Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 1.2018. July 12. Available at http://www.nccn.org.
Last Updated on 09-Jul-2019
Male Breast High Risk
Pancreatic High Risk
Prostate High Risk
Melanoma Elevated Risk
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 pancreatic cancer and an elevated risk for melanomas of both the skin and eyes.
Second primary within 5 years of first breast cancer diagnosis4, 8, 9 8%-12% 2%
Ovarian To age 503, 5, 6, 7 0.4%-4% 0.2%
Ovarian cancer within 10 years of a breast cancer diagnosis9, 10 6.8% <1.0%
Pancreatic To age 806, 11, 12 7%, or higher if there is a family history of pancreatic cancer. 1%
Prostate To age 706, 14, 15 20% 6.6%
Melanoma To age 806, 16, 17 Elevated risk for melanomas of both the skin and eye 1.6%
Ovarian Bilateral salpingo-oophorectomy2 35 to 45 years, upon completion of childbearing NA
Prostate Recommend prostate cancer screening.1, 2 40 to 45 years, or 10 years younger than the earliest prostate cancer diagnosis in the family Annually, or adjusted based on results from first PSA screen
Melanoma Consider whole-body skin and eye examinations.2 Individualized NA
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 spouse/partner of this patient for BRCA2 mutations may be appropriate.26
Ford D, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 62:676-89. PMID: 9497246.
Verhoog LC, et al. Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol. 1999 17:3396-402. PMID: 10550133.
van Asperen CJ, et al. Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON) . Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet. 2005 42:711-9. PMID: 16141007.
Moran A, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer. 2012 11:235-42. PMID: 22187320.
Gumaste PV, et al. Skin cancer risk in BRCA1/2 mutation carriers. Br J Dermatol. 2015 172:1498-506. PMID: 25524463.
Mehta PA, Tolar J. Fanconi Anemia. 2018 Mar 8. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from http://www.ncbi.nlm.nih.gov/books/NBK1401/ PMID: 20301575.
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