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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial breast cancer

*

* Not a rare disease

Other Names for this Disease
  • Breast cancer, familial
  • Genetic breast cancer
  • Heritable breast cancer
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Familial breast cancer is a cluster of breast cancer within a family. Most cases of breast cancer occur sporadically in people with little to no family history of the condition. Approximately 5-10% of breast cancer is considered "hereditary" and is thought to be caused by an inherited predisposition to breast cancer that is passed down through a family in an autosomal dominant manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the BRCA1, BRCA2, PTEN, TP53, CDH1, or STK11 genes (which are each associated with a unique hereditary cancer syndrome). An additional 15-20% of women diagnosed with breast cancer have a significant family history of breast cancer (two or more first-degree or second-degree relatives with breast cancer) but have no identifiable mutation in a gene known to cause a hereditary predisposition to breast cancer. These clusters of breast cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle.[1][2][3] High-risk cancer screening and other preventative measures such as chemoprevention and/or prophylactic surgeries are typically recommended in women who have an increased risk for breast cancer based on their personal and/or family histories.[4]
Last updated: 3/23/2015

References

  1. Genetics of Breast and Gynecologic Cancers (PDQ®). National Cancer Institute. February 2015; http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional.
  2. Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol. January 2015; [Epub ahead of print]:Accessed 3/18/2015.
  3. Economopoulou P, Dimitriadis G, Psyrri A. Beyond BRCA: new hereditary breast cancer susceptibility genes. Cancer Treat Rev. January 2015; 41(1):1-8.
  4. Therese Bevers, MD. Breast Cancer Screening and Diagnosis. National Comprehensive Cancer Network. January 2014; Accessed 3/23/2015.
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Please contact us with your questions about Familial breast cancer. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Familial breast cancer. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic.
     
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial breast cancer. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Breast cancer, familial
  • Genetic breast cancer
  • Heritable breast cancer
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.