National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

BRCA1 hereditary breast and ovarian cancer syndrome

BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined.[1][2] This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner.[3] Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.[1][4]
Last updated: 3/10/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal fallopian tube morphology 0011027
Ovarian neoplasm
Ovarian tumor
0100615
Primary peritoneal carcinoma 0030406
30%-79% of people have these symptoms
Breast carcinoma
Breast cancer
0003002
5%-29% of people have these symptoms
Melanoma 0002861
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor
[ more ] 		0002894
Prostate cancer 0012125
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Olaparib (Brand name: Lynparza) - Manufactured by AstraZeneca Pharmaceuticals LP
    FDA-approved indication: December 2018, olaparib (Lynparza) received expanded approval for the maintenance treatment of adult patients with deleterious or suspected deleterious germline or somatic BRCA-mutated (gBRCAm or sBRCAm) advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum based chemotherapy. Select patients with gBRCAm advanced epithelial ovarian, fallopian tube or primary peritoneal cancer for therapy based on FDA-approved companion diagnostic for Lynparza. Original approval was in August 2017.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information
  • Rucaparib (Brand name: Rubraca) - Manufactured by Clovis Oncology, Inc.
    FDA-approved indication: December 2016 approved as monotherapy for the treatment of patients with deleterious BRCA mutation (germline and/or somatic) associated advanced ovarian cancer who have been treated with two or more chemotherapies.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to BRCA1 hereditary breast and ovarian cancer syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • MD Anderson Cancer Center offers a free online course on BRCA1 hereditary breast and ovarian cancer syndrome. Click on the link to access this course.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss BRCA1 hereditary breast and ovarian cancer syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Claudine Isaacs, MD; Suzanne W Fletcher, MD; Beth N Peshkin, MS, CGC. Management of hereditary breast and ovarian cancer syndrome patients with BRCA mutations. UpToDate. July 2014; Accessed 3/10/2015.
  2. BRCA1 and BRCA2: Cancer Risk and Genetic Testing. National Cancer Institute. January 2014; http://www.cancer.gov/cancertopics/genetics/brca-fact-sheet.
  3. Genetics of Breast and Gynecologic Cancers (PDQ®). National Cancer Institute. 2017; http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional.
  4. Daly MB & cols. Genetic/Familial High-Risk Assessment: Breast and Ovarian. National Comprehensive Cancer Network. 2015; https://www.tri-kobe.org/nccn/guideline/gynecological/english/genetic_familial.pdf.
  5. Beth N Peshkin, MS, CGC; Claudine Isaacs, MD. BRCA1 and BRCA2: Prevalence and risks for breast and ovarian cancer. UpToDate. July 2014; Accessed 3/10/2015.