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

View Details
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:

The first case report of a large deletion of the BRCA1 gene in Croatia: A case report.
 

Author(s): Vesna Musani, Ilona Sušac, Petar Ozretić, Domagoj Eljuga, Sonja Levanat

Journal: Medicine (Baltimore). 2017 Dec;96(48):e8667.

 

Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer.

Last Updated: 31 Dec 1969

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Diagnostic markers for the detection of ovarian cancer in BRCA1 mutation carriers.
 

Author(s): Daphne Gschwantler-Kaulich, Sigrid Weingartshofer, Christine Rappaport-Fürhauser, Robert Zeilinger, Dietmar Pils, Daniela Muhr, Elena I Braicu, Marie-Therese Kastner, Yen Y Tan, Lorenz Semmler, Jalid Sehouli, Christian F Singer

Journal:

 

Screening for ovarian cancer (OC) in women at high risk consists of a combination of carbohydrate antigen 125 (CA125) and transvaginal ultrasound, despite their low sensitivity and specificity. This could be improved by the combination of several biomarkers, which has been shown in ...

Last Updated: 31 Dec 1969

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BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
 

Author(s): Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla

Journal:

 

Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC).

Last Updated: 31 Dec 1969

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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 127 free, full-text review articles on human participants. First 3 results:

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
 

Author(s): Ettore Capoluongo, Gillian Ellison, José Antonio López-Guerrero, Frederique Penault-Llorca, Marjolijn J L Ligtenberg, Susana Banerjee, Christian Singer, Eitan Friedman, Birgid Markiefka, Peter Schirmacher, Reinhard Büttner, Christi J van Asperen, Isabelle Ray-Coquard, Volker Endris, Suzanne Kamel-Reid, Natalie Percival, Jane Bryce, Benno Röthlisberger, Richie Soong, David Gonzalez de Castro

Journal: Semin. Oncol.. 2017 Jun;44(3):187-197.

 

The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing ...

Last Updated: 31 Dec 1969

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Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
 

Author(s): Lilian Jara, Sebastian Morales, Tomas de Mayo, Patricio Gonzalez-Hormazabal, Valentina Carrasco, Raul Godoy

Journal:

 

Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease ...

Last Updated: 31 Dec 1969

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The BRCA1 Ubiquitin ligase function sets a new trend for remodelling in DNA repair.
 

Author(s): Ruth M Densham, Joanna R Morris

Journal: Nucleus. 2017 Mar;8(2):116-125.

 

The protein product of the breast and ovarian cancer gene, BRCA1, is part of an obligate heterodimer with BARD1. Together these RING bearing proteins act as an E3 ubiquitin ligase. Several functions have been attributed to BRCA1 that contribute to genome integrity but which of these, ...

Last Updated: 31 Dec 1969

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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: 20 Mar 2017

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Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations
 

Status: Recruiting

Condition Summary: Genetic Testing; BRCA1/2

 

Last Updated: 5 Jan 2018

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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 BRCA1,2

 

Last Updated: 2 Mar 2017

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