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 1861 free, full-text research articles on human participants. First 3 results:

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
 

Author(s): Timothy R Rebbeck, Nandita Mitra, Fei Wan, Olga M Sinilnikova, Sue Healey, Lesley McGuffog, Sylvie Mazoyer, Georgia Chenevix-Trench, Douglas F Easton, Antonis C Antoniou, Katherine L Nathanson, , Yael Laitman, Anya Kushnir, Shani Paluch-Shimon, Raanan Berger, Jamal Zidan, Eitan Friedman, Hans Ehrencrona, Marie Stenmark-Askmalm, Zakaria Einbeigi, Niklas Loman, Katja Harbst, Johanna Rantala, Beatrice Melin, Dezheng Huo, Olufunmilayo I Olopade, Joyce Seldon, Patricia A Ganz, Robert L Nussbaum, Salina B Chan, Kunle Odunsi, Simon A Gayther, Susan M Domchek, Banu K Arun, Karen H Lu, Gillian Mitchell, Beth Y Karlan, Christine Walsh, Jenny Lester, Andrew K Godwin, Harsh Pathak, Eric Ross, Mary B Daly, Alice S Whittemore, Esther M John, Alexander Miron, Mary Beth Terry, Wendy K Chung, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Laima Tihomirova, Nadine Tung, Cecilia M Dorfling, Elizabeth J van Rensburg, Linda Steele, Susan L Neuhausen, Yuan Chun Ding, Bent Ejlertsen, Anne-Marie Gerdes, Thomas v O Hansen, Teresa Ramón y Cajal, Ana Osorio, Javier Benitez, Javier Godino, Maria-Isabel Tejada, Mercedes Duran, Jeffrey N Weitzel, Kristie A Bobolis, Sharon R Sand, Annette Fontaine, Antonella Savarese, Barbara Pasini, Bernard Peissel, Bernardo Bonanni, Daniela Zaffaroni, Francesca Vignolo-Lutati, Giulietta Scuvera, Giuseppe Giannini, Loris Bernard, Maurizio Genuardi, Paolo Radice, Riccardo Dolcetti, Siranoush Manoukian, Valeria Pensotti, Viviana Gismondi, Drakoulis Yannoukakos, Florentia Fostira, Judy Garber, Diana Torres, Muhammad Usman Rashid, Ute Hamann, Susan Peock, Debra Frost, Radka Platte, D Gareth Evans, Rosalind Eeles, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Shirley Hodgson, Patrick J Morrison, Lisa Walker, Mary E Porteous, M John Kennedy, Louise Izatt, Julian Adlard, Alan Donaldson, Steve Ellis, Priyanka Sharma, Rita Katharina Schmutzler, Barbara Wappenschmidt, Alexandra Becker, Kerstin Rhiem, Eric Hahnen, Christoph Engel, Alfons Meindl, Stefanie Engert, Nina Ditsch, Norbert Arnold, Hans Jörg Plendl, Christoph Mundhenke, Dieter Niederacher, Markus Fleisch, Christian Sutter, C R Bartram, Nicola Dikow, Shan Wang-Gohrke, Dorothea Gadzicki, Doris Steinemann, Karin Kast, Marit Beer, Raymonda Varon-Mateeva, Andrea Gehrig, Bernhard H Weber, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Sylvie Mazoyer, Claude Houdayer, Muriel Belotti, Marion Gauthier-Villars, Francesca Damiola, Nadia Boutry-Kryza, Christine Lasset, Hagay Sobol, Jean-Philippe Peyrat, Danièle Muller, Jean-Pierre Fricker, Marie-Agnès Collonge-Rame, Isabelle Mortemousque, Catherine Nogues, Etienne Rouleau, Claudine Isaacs, Anne De Paepe, Bruce Poppe, Kathleen Claes, Kim De Leeneer, Marion Piedmonte, Gustavo Rodriguez, Katie Wakely, John Boggess, Stephanie V Blank, Jack Basil, Masoud Azodi, Kelly-Anne Phillips, Trinidad Caldes, Miguel de la Hoya, Atocha Romero, Heli Nevanlinna, Kristiina Aittomäki, Annemarie H van der Hout, Frans B L Hogervorst, Senno Verhoef, J Margriet Collée, Caroline Seynaeve, Jan C Oosterwijk, Johannes J P Gille, Juul T Wijnen, Encarna B Gómez Garcia, Carolien M Kets, Margreet G E M Ausems, Cora M Aalfs, Peter Devilee, Arjen R Mensenkamp, Ava Kwong, Edith Olah, Janos Papp, Orland Diez, Conxi Lazaro, Esther Darder, Ignacio Blanco, Mónica Salinas, Anna Jakubowska, Jan Lubinski, Jacek Gronwald, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Grzegorz Sukiennicki, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Elżbieta Złowocka-Perłowska, Janusz Menkiszak, Adalgeir Arason, Rosa B Barkardottir, Jacques Simard, Rachel Laframboise, Marco Montagna, Simona Agata, Elisa Alducci, Ana Peixoto, Manuel R Teixeira, Amanda B Spurdle, Min Hyuk Lee, Sue K Park, Sung-Won Kim, Tara M Friebel, Fergus J Couch, Noralane M Lindor, Vernon S Pankratz, Lucia Guidugli, Xianshu Wang, Marc Tischkowitz, Lenka Foretova, Joseph Vijai, Kenneth Offit, Mark Robson, Rohini Rau-Murthy, Noah Kauff, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Gschwantler-Kaulich, Georg Pfeiler, Muy-Kheng Tea, Andreas Berger, Mark H Greene, Phuong L Mai, Evgeny N Imyanitov, Amanda Ewart Toland, Leigha Senter, Anders Bojesen, Inge Sokilde Pedersen, Anne-Bine Skytte, Lone Sunde, Mads Thomassen, Sanne Traasdahl Moeller, Torben A Kruse, Uffe Birk Jensen, Maria Adelaide Caligo, Paolo Aretini, Soo-Hwang Teo, Christina G Selkirk, Peter J Hulick, Irene Andrulis

Journal: JAMA. 2015 Apr;313(13):1347-61.

 

Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.

Last Updated: 8 Apr 2015

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BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair.
 

Author(s): Elodie Hatchi, Konstantina Skourti-Stathaki, Steffen Ventz, Luca Pinello, Angela Yen, Kinga Kamieniarz-Gdula, Stoil Dimitrov, Shailja Pathania, Kristine M McKinney, Matthew L Eaton, Manolis Kellis, Sarah J Hill, Giovanni Parmigiani, Nicholas J Proudfoot, David M Livingston

Journal: Mol. Cell. 2015 Feb;57(4):636-47.

 

The mechanisms contributing to transcription-associated genomic instability are both complex and incompletely understood. Although R-loops are normal transcriptional intermediates, they are also associated with genomic instability. Here, we show that BRCA1 is recruited to R-loops ...

Last Updated: 21 Feb 2015

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Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.
 

Author(s): Andrea Björkman, Per Qvist, Likun Du, Margarita Bartish, Apostolos Zaravinos, Konstantinos Georgiou, Anders D Børglum, Richard A Gatti, Therese Törngren, Qiang Pan-Hammarström

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Feb;112(7):2157-62.

 

Breast cancer type 1 susceptibility protein (BRCA1) has a multitude of functions that contribute to genome integrity and tumor suppression. Its participation in the repair of DNA double-strand breaks (DSBs) during homologous recombination (HR) is well recognized, whereas its involvement ...

Last Updated: 18 Feb 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 102 free, full-text review articles on human participants. First 3 results:

Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and a target for ovarian cancer therapy.
 

Author(s): Christine S Walsh

Journal: Gynecol. Oncol.. 2015 May;137(2):343-50.

 

Almost exactly 20 years after their discovery, the BRCA1 and BRCA2 genes have become the target of the first "personalized" therapy available for patients with ovarian cancer. In December 2014, a poly(ADP-ribose) polymerase (PARP) inhibitor was granted expedited approved by the United ...

Last Updated: 8 May 2015

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BRCA1 and estrogen/estrogen receptor in breast cancer: where they interact?
 

Author(s): Li Wang, Li-Jun Di

Journal:

 

BRCA1 mainly acts as a tumor suppressor and BRCA1 mutation correlates with increased cancer risk. Although it is well recognized that BRCA1 related tumorigenesis is mainly caused by the increased DNA damage and decreased genome stability, it is not clear that why BRCA1 related patients ...

Last Updated: 9 Jun 2014

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Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis.
 

Author(s): Tara M Friebel, Susan M Domchek, Timothy R Rebbeck

Journal: J. Natl. Cancer Inst.. 2014 Jun;106(6):dju091.

 

There is substantial variability in cancer risk in women who have inherited a BRCA1 or BRCA2 (BRCA1/2) mutation. Numerous factors have been hypothesized to modify these risks, but studies are of variable quality, and it remains unclear which of these may be of value in clinical risk assessment.

Last Updated: 23 Jun 2014

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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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