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Disease Profile

BRCA2 hereditary breast and ovarian cancer syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HBOC; Familial susceptibility to breast-ovarian cancer 2; BROVCA2

Categories

Congenital and Genetic Diseases; Female Reproductive Diseases; Hereditary Cancer Syndromes;

Summary

BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined.[1][2] This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner.[3] Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries.[1][4]

Symptoms

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.

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

Diagnosis

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.

    Treatment

    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 BRCAmutated (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

    Organizations

    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

        Learn more

        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 BRCA2 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 BRCA2 hereditary breast and ovarian cancer syndrome. Click on the link to view a sample search on this topic.

            References

            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; https://www.cancer.gov/cancertopics/genetics/brca-fact-sheet.
            3. Genetics of Breast and Gynecologic Cancers (PDQ®). National Cancer Institute. 2017; https://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.