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 2034 free, full-text research articles on human participants. First 3 results:

Last Updated: 7 Oct 2015

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Selective resistance to the PARP inhibitor olaparib in a mouse model for BRCA1-deficient metaplastic breast cancer.
 

Author(s): Linda Henneman, Martine H van Miltenburg, Ewa M Michalak, Tanya M Braumuller, Janneke E Jaspers, Anne Paulien Drenth, Renske de Korte-Grimmerink, Ewa Gogola, Karoly Szuhai, Andreas Schlicker, Rahmen Bin Ali, Colin Pritchard, Ivo J Huijbers, Anton Berns, Sven Rottenberg, Jos Jonkers

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Jul;112(27):8409-14.

 

Metaplastic breast carcinoma (MBC) is a rare histological breast cancer subtype characterized by mesenchymal elements and poor clinical outcome. A large fraction of MBCs harbor defects in breast cancer 1 (BRCA1). As BRCA1 deficiency sensitizes tumors to DNA cross-linking agents and ...

Last Updated: 8 Jul 2015

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Class I histone deacetylase inhibitors inhibit the retention of BRCA1 and 53BP1 at the site of DNA damage.
 

Author(s): Takayo Fukuda, Wenwen Wu, Maiko Okada, Ichiro Maeda, Yasuyuki Kojima, Ryosuke Hayami, Yasuo Miyoshi, Ko-ichiro Tsugawa, Tomohiko Ohta

Journal: Cancer Sci.. 2015 Aug;106(8):1050-6.

 

BRCA1 and 53BP1 antagonistically regulate homology-directed repair (HDR) and non-homologous end-joining (NHEJ) of DNA double-strand breaks (DSB). The histone deacetylase (HDAC) inhibitor trichostatin A directly inhibits the retention of 53BP1 at DSB sites by acetylating histone H4 ...

Last Updated: 13 Aug 2015

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

Chemotherapy for Patients with BRCA1 and BRCA2-Mutated Ovarian Cancer: Same or Different?
 

Author(s): David S P Tan, Stanley B Kaye

Journal: Am Soc Clin Oncol Educ Book. 2015 ;():114-21.

 

Retrospective studies have shown an improved prognosis, higher response rates to platinum-containing regimens, and longer treatment-free intervals between relapses in patients with BRCA 1 and BRCA 2 (BRCA1/2)-mutated ovarian cancer (BMOC) compared with patients who are not carriers ...

Last Updated: 21 May 2015

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Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins.
 

Author(s): Rohit Prakash, Yu Zhang, Weiran Feng, Maria Jasin

Journal:

 

Homologous recombination (HR) is a major pathway for the repair of DNA double-strand breaks in mammalian cells, the defining step of which is homologous strand exchange directed by the RAD51 protein. The physiological importance of HR is underscored by the observation of genomic instability ...

Last Updated: 2 Apr 2015

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BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.
 

Author(s): Abdelilah Laraqui, Nancy Uhrhammer, Hicham E L Rhaffouli, Yassine Sekhsokh, Idriss Lahlou-Amine, Tahar Bajjou, Farida Hilali, Jamila El Baghdadi, Abderrahmane Al Bouzidi, Youssef Bakri, Said Amzazi, Yves-Jean Bignon

Journal: Dis. Markers. 2015 ;2015():194293.

 

The contribution of BRCA1 mutations to both hereditary and sporadic breast and ovarian cancer (HBOC) has not yet been thoroughly investigated in MENA.

Last Updated: 27 Mar 2015

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Symptoms, Diagnosis, and Treatment

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

Cisplatin-monotherapy in the Treatment of BRCA1 Positive Breast Cancer Patients in Poland
 

Status: Recruiting

Condition Summary: BRCA1 Mutation; Breast Cancer Invasive Nos

 

Last Updated: 10 Jul 2012

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COsegregation of VARiants in the BRCA1/2 Genes
 

Status: Recruiting

Condition Summary: Genes, BRCA1; Genes, BRCA2; Ovarian Neoplasms; Breast Neoplasms

 

Last Updated: 5 Sep 2014

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Study With Trabectedin in BRCA1 and BRCA2 Mutation Carrier and BRCAness Phenotype Ovarian Cancer
 

Status: Recruiting

Condition Summary: BRCA1 and BRCA2 Mutation Carrier and BRCAness Phenotype

 

Last Updated: 17 Jan 2013

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