BRCA1

Common Name(s)

BRCA1

BRCA1 (breast cancer 1, early onset)is a specific gene found in a person’s DNA, or genetic code. Sometimes there are variations or mutations in a person’s genetic code. While some of these go unnoticed (harmless changes), others may have negative effects or put a person at risk for certain health problems. Harmful mutations in the BRCA1 gene (BRCA1 mutation) lead to an increased risk of certain cancers, especially breast cancer and ovarian cancer in women. On average, a woman with a BRCA1 mutation has 50-85% risk of developing breast cancer by age 70 and a 40-60% risk of developing ovarian cancer by age 85. The risk varies depending on the exact mutation, family history, and other genes which may modify the cancer risk. Men with a BRCA1 mutation may be at an increased risk to develop male breast and prostate cancer. Both men and women with a BRCA1 mutation may be at an increased risk to develop cancer of the pancreas. Individuals with a BRCA1 mutation require screening for these cancers more often. Some women may even decide to have prophylactic (risk reducing) surgical removal of the breasts (mastectomy) or ovaries (oophorectomy) before they have cancer, in order to prevent developing these cancers. Management and prevention options for individuals with a BRCA1 mutation are individualized based on other factors such as family history of cancer, personal preference, and other risk factors for cancer. To decide the best care plan for yourself, talk with your physician if you or a family member has a mutation in the BRCA1 gene. Talking with a genetic counselor or specialist may be helpful, as well as with other women and men who also have a BRCA1 mutation through support organizations. Genetic testing may be recommended if you have a family history of certain cancers or for certain ethnic backgrounds. If you are concerned that you should be tested, it is recommended that you speak with a genetic counselor.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "BRCA1" for support, advocacy or research.

Basser Research Center for BRCA

The Basser Research Center for BRCA provides education and support for individuals and families with BRCA1 and BRCA2 mutations. Our mission is to deliver cutting edge research in basic and clinical sciences to advance the care of individuals who carry BRCA mutations. The Basser Center is part of the Abramson Cancer Center at Penn Medicine.

Last Updated: 29 Oct 2014

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Breast Cancer Options

Our mission is to educate breast cancer patients about effective treatment options, to advocate for and support informed patient choice and to promote public awareness regarding cancer risk reduction.

Last Updated: 13 Feb 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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FORCE: Facing Our Risk of Cancer Empowered

FORCE is a national nonprofit dedicated to fighting hereditary breast and ovarian cancer. With 50 outreach groups throughout the U.S., and international affiliates, FORCE programs provide support, education, advocacy, awareness and research specific to hereditary cancers. Our programs serve anyone with a BRCA mutation or a family history of cancer. FORCE was founded on the principle that no one should have to face hereditary breast and ovarian cancer alone.

Last Updated: 5 May 2014

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HIS Breast Cancer Awareness

An organization for information about Male Breast Cancer. We are here to inform, to educate, bring awareness, and to teach prevention regarding breast cancer in men and genetic testing. We are here to assist and inform once you have been diagnosed with breast cancer.

Last Updated: 1 Nov 2014

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Sharsheret

Sharsheret is a national not-for-profit organization supporting young Jewish women and their families facing breast cancer. Our mission is to offer a community of support to women, of all Jewish backgrounds, diagnosed with breast cancer or at increased genetic risk, by fostering culturally-relevant individualized connections with networks of peers, health professionals, and related resources.

Last Updated: 5 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "BRCA1" for support, advocacy or research.

Basser Research Center for BRCA

The Basser Research Center for BRCA provides education and support for individuals and families with BRCA1 and BRCA2 mutations. Our mission is to deliver cutting edge research in basic and clinical sciences to advance the care of individuals who carry BRCA mutations. The Basser Center is part of the Abramson Cancer Center at Penn Medicine.

http://www.basser.org

Last Updated: 29 Oct 2014

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Breast Cancer Options

Our mission is to educate breast cancer patients about effective treatment options, to advocate for and support informed patient choice and to promote public awareness regarding cancer risk reduction.

http://www.breastcanceroptions.org

Last Updated: 13 Feb 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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FORCE: Facing Our Risk of Cancer Empowered

FORCE is a national nonprofit dedicated to fighting hereditary breast and ovarian cancer. With 50 outreach groups throughout the U.S., and international affiliates, FORCE programs provide support, education, advocacy, awareness and research specific to hereditary cancers. Our programs serve anyone with a BRCA mutation or a family history of cancer. FORCE was founded on the principle that no one should have to face hereditary breast and ovarian cancer alone.

http://www.facingourrisk.org

Last Updated: 5 May 2014

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HIS Breast Cancer Awareness

An organization for information about Male Breast Cancer. We are here to inform, to educate, bring awareness, and to teach prevention regarding breast cancer in men and genetic testing. We are here to assist and inform once you have been diagnosed with breast cancer.

http://hisbreastcancer.org/

Last Updated: 1 Nov 2014

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Sharsheret

Sharsheret is a national not-for-profit organization supporting young Jewish women and their families facing breast cancer. Our mission is to offer a community of support to women, of all Jewish backgrounds, diagnosed with breast cancer or at increased genetic risk, by fostering culturally-relevant individualized connections with networks of peers, health professionals, and related resources.

http://www.sharsheret.org

Last Updated: 5 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "BRCA1" returned 2109 free, full-text research articles on human participants. First 3 results:

Identification of BRCA1 Deficiency Using Multi-Analyte Estimation of BRCA1 and Its Repressors in FFPE Tumor Samples from Patients with Triple Negative Breast Cancer.
 

Author(s): Aruna Korlimarla, Jyothi S Prabhu, Jose Remacle, Savitha Rajarajan, Uma Raja, Anupama C E, B S Srinath, Suraj Manjunath, Gopinath K S, Marjorrie Correa, Prasad M S N, T S Sridhar

Journal:

 

Apart from germ-line BRCA1-mutated breast cancers, a significant proportion of women with sporadic triple negative breast cancer (TNBC) sub-type are known to harbour varying levels of BRCA1-dysfuction. There is currently no established diagnostic method to identify these patients.

Last Updated: 15 Apr 2016

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Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.
 

Author(s): Sarra Henouda, Assia Bensalem, Rym Reggad, Nedda Serrar, Leila Rouabah, Pascal Pujol

Journal: Dis. Markers. 2016 ;2016():7869095.

 

Breast cancer is the most common female malignancy and the leading cancer mortality cause among Algerian women. Germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast cancer have not been clearly identified within the Algerian population. It is necessary ...

Last Updated: 21 Mar 2016

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Prolactin inhibits a major tumor-suppressive function of wild type BRCA1.
 

Author(s): Kuan-Hui Ethan Chen, Ameae M Walker

Journal: Cancer Lett.. 2016 Jun;375(2):293-302.

 

Even though mutations in the tumor suppressor, BRCA1, markedly increase the risk of breast and ovarian cancer, most breast and ovarian cancers express wild type BRCA1. An important question is therefore how the tumor-suppressive function of normal BRCA1 is overcome during development ...

Last Updated: 15 Apr 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "BRCA1" returned 124 free, full-text review articles on human participants. First 3 results:

BRCA1 Mutation: A Predictive Marker for Radiation Therapy?
 

Author(s): Charlene Kan, Junran Zhang

Journal: Int. J. Radiat. Oncol. Biol. Phys.. 2015 Oct;93(2):281-93.

 

DNA repair, in particular, DNA double-strand break (DSB) repair, is essential for the survival of both normal and cancer cells. An elaborate repair mechanism has been developed in cells to efficiently repair the damaged DNA. The pathways predominately involved in DSB repair are homologous ...

Last Updated: 19 Sep 2015

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BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
 

Author(s): D M Eccles, G Mitchell, A N A Monteiro, R Schmutzler, F J Couch, A B Spurdle, E B Gómez-García,

Journal: Ann. Oncol.. 2015 Oct;26(10):2057-65.

 

Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from a primarily prevention arena delivered by specialist genetic services into mainstream oncology practice. A considerable ...

Last Updated: 22 Sep 2015

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Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers.
 

Author(s): Janet R Vos, Li Hsu, Richard M Brohet, Marian J E Mourits, Jakob de Vries, Kathleen E Malone, Jan C Oosterwijk, Geertruida H de Bock

Journal: J. Clin. Oncol.. 2015 Aug;33(23):2553-62.

 

Recommendations for treating patients who carry a BRCA1/2 gene are mainly based on cumulative lifetime risks (CLTRs) of breast cancer determined from retrospective cohorts. These risks vary widely (27% to 88%), and it is important to understand why. We analyzed the effects of methods ...

Last Updated: 7 Aug 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)
 

Status: Recruiting

Condition Summary: Women With BRCA1 Germline Deleterious Mutation

 

Last Updated: 8 Jul 2016

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BRCA1/2 and Effect of Mifepristone on the Breast
 

Status: Recruiting

Condition Summary: Women With Mutations in the Breast Cancer Susceptibility Genes BRCA-1 and -2.

 

Last Updated: 30 Sep 2016

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The IMPACT Study - Identification of Men With a Genetic Predisposition to ProstAte Cancer
 

Status: Recruiting

Condition Summary: Prostate Cancer in BRCA1 and BRCA2 Carriers

 

Last Updated: 31 Aug 2016

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