Familial breast cancer

Información en español Title

Not a rare disease

Other Names:

Breast cancer, familial; Heritable breast cancer; Genetic breast cancer; Breast cancer, familial; Heritable breast cancer; Genetic breast cancer; Hereditary breast cancer; Hereditary breast carcinoma; Familial breast carcinoma See More

Categories:

Congenital and Genetic Diseases; Female Reproductive Diseases; Rare Cancers

Summary Summary

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). Additional genes, such as CHEK2, BRIP1, RAD51, and ATM, are associated with breast and/or gynecologic cancers in some cases. About 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: 8/30/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal dominant inheritance	-
Breast carcinoma	-
Heterogeneous	-

Last updated: 9/1/2017

Cause Cause

Most cases of breast cancer occur sporadically in people with little to no family history of the condition. They are due to random changes (mutations) that occur only in the cells of the breast. These mutations (called somatic mutations) accumulate during a person's lifetime and are not inherited or passed on to future generations.^[1]

Approximately 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.^[3]

An additional 5-10% of breast cancer is considered "hereditary." These cases are 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 part of a hereditary cancer syndrome. The following cancer syndromes are associated with an increased risk of breast cancer and several other types of cancer:^[1]^[2]^[3]

Hereditary breast and ovarian cancer syndrome due to mutations in the BRCA1 or BRCA2 gene is the most common known cause of hereditary breast cancer
Cowden syndrome is caused by mutations in PTEN gene
Li Fraumeni syndrome is caused by mutations in the TP53 gene
Hereditary Diffuse Gastric Cancer is caused by mutations in the CDH1 gene
Peutz-Jeghers syndrome is caused by mutations in the STK11 gene

Of note, some research suggests that inherited mutations in several other genes (including CHEK2, BRIP1, ATM, PALB2, RAD51, BARD1, MRE11A, NBN, and RAD50) may also be associated with an increased risk for breast cancer. However, the risk associated with many of these genes is not well understood. Most are termed "moderate- or low-penetrant" genes which means that, on their own, they would be expected to have a relatively small effect on breast cancer risk. However, in combination with other genes and/or environmental factors, these genes may lead to a significant risk of breast cancer.^[1]^[3]^[2]

Last updated: 8/31/2017

Inheritance Inheritance

Most cases of breast cancer occur sporadically in people with little to no family history of the condition. However, approximately 5-10% is thought to be inherited in an autosomal dominant manner. In these cases, a person is born with a mutation in a gene known to cause a hereditary predisposition to breast cancer and has a 50% chance with each pregnancy of passing along the mutated gene to his or her child. A person only needs a mutation in one copy of the responsible gene in each cell to have an increased risk for breast cancer. In some cases, a person with familial breast cancer inherits the mutation from a parent who has had or has familial breast cancer. Other cases may result from new (de novo) mutations in the gene.^[1]^[2]^[3]

An additional 15-20% of women who are diagnosed with breast cancer have a significant family history of breast cancer (two or more first-degree or second-degree relatives who have or have had breast cancer) but the cancer follows no clear pattern of inheritance. These cases of breast cancer may be due to inherited gene(s); shared factors such as environment and lifestyle; or a combination of all these factors.^[3]

Last updated: 8/31/2017

Diagnosis 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 Treatment

Management of familial breast cancer is generally focused on high-risk cancer screening to allow for early detection and treatment of cancer. In general, the National Comprehensive Cancer Network recommends high-risk breast cancer screening for women who have: (1) a personal and family history suggestive of a hereditary cancer syndrome that is associated with breast cancer or (2) a greater than 20% risk of developing breast cancer in their lifetime based largely on family history. The recommended screening protocol includes:^[4]

Breast awareness and breast self-exams
Clinical breast exams every 6-12 months beginning at age 30 or individualized based on the earliest breast cancer diagnosis in the family
Annual mammogram and breast MRI beginning at age 30 or individualized based on the earliest breast cancer diagnosis in the family
Discussion of other risk reduction strategies such as chemoprevention and/or prophylactic surgeries

If the familial breast cancer is part of a known hereditary cancer syndrome, management will also include screening for the other associated cancers. Please click on the following links for more information regarding the treatment and management of each condition:

Last updated: 8/31/2017

Do you have updated information on this condition? Let us know.

Research Research

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 studying or have studied Familial breast cancer. 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.

Organizations 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

Bright Pink
670 N. Clark St., Suite 2
Chicago, IL 60654
Website: http://www.brightpink.org
FORCE: Facing Our Risk of Cancer Empowered
16057 Tampa Palms Blvd. W, PMB #373
Tampa, FL 33647
Toll-free: 866-288-RISK (7475)
Fax: 954-827-2200
E-mail: info@facingourrisk.org
Website: http://www.facingourrisk.org
The Susan G. Komen Breast Cancer Foundation
5005 LBJ Freeway
Suite 250
Dallas, TX 75244
Toll-free: 877-465-6636
Telephone: 972-855-1600
Fax: 972-855-1605
E-mail: helpline@komen.org
Website: http://ww5.komen.org/

Organizations Providing General Support

American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 800-227-2345
Website: http://www.cancer.org
CancerCare
275 Seventh Ave, Floor 22
New York, NY 10001
Toll-free: 800-813-HOPE
Fax: 212-712-8495
E-mail: info@cancercare.org
Website: http://www.cancercare.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

Learn More 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

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.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

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.
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 Familial breast cancer. Click on the link to view a sample search on this topic.

News & Events News & Events

NCATS Co-Sponsored Conferences

Advancing Symptom Clusters Research on Rare Cancers Wednesday, June 17, 2015
Location: NIH Neuroscience Building, Bethesda, MD
Description:
It is intended that the in-depth, interdisciplinary dialogue of this expert working group will formulate an emerging consensus on a working definition of symptom clusters and, specific gaps and opportunities that provide a foundation for a transformative strategic blueprint to guide future symptom cluster research in rare cancers. In addition, it is anticipated that workshop proceedings will inform a funding opportunity announcement.

Contact: Sue Marden, Ph.D.,(301) 496-9623,mardens@mail.nih.gov

Co-funding Institute(s): National Institute of Nursing Research, Office of Rare Diseases Research
Overcoming Barriers to International Clinical Trials for Rare Cancers Friday, December 10, 2010
Location: Bethesda, Maryland
Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.

Contact: Jack Welch, M.D., Ph.D., jack.welch@nih.govjack.welch@nih.gov

Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
- Summary ( - 46KB)

Related Diseases Related Diseases

The following diseases are related to Familial breast cancer. If you have a question about any of these diseases, you can contact GARD.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

Genetics of Breast and Gynecologic Cancers (PDQ®). National Cancer Institute. 2017; http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional.
Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol. January 2015; [Epub ahead of print]:
Economopoulou P, Dimitriadis G, Psyrri A. Beyond BRCA: new hereditary breast cancer susceptibility genes. Cancer Treat Rev. January 2015; 41(1):1-8.
Bevers T. Breast Cancer Screening and Diagnosis. National Comprehensive Cancer Network. January 2014;