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Breast-ovarian cancer, familial 1(BROVCA1)

MedGen UID:
382914
Concept ID:
C2676676
Finding
Synonyms: BRCA1 Hereditary Breast and Ovarian Cancer; Breast cancer, familial 1; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; OVARIAN CANCER, SUSCEPTIBILITY TO
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): BRCA1 (17q21.31)
OMIM®: 604370

Disease characteristics

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]
Authors:
Nancie Petrucelli  |  Mary B Daly  |  Gerald L Feldman   view full author information

Additional description

From GHR
Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 140,000 women annually, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.  https://ghr.nlm.nih.gov/condition/ovarian-cancer

Clinical features

Breast Carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.
Breast Carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS; American Society of Clinical Oncology
J Clin Oncol 2014 Mar 10;32(8):833-40. Epub 2014 Feb 3 doi: 10.1200/JCO.2013.50.9257. [Epub ahead of print] PMID: 24493721Free PMC Article
Ann Intern Med 2014 Feb 18;160(4):I-16. doi: 10.7326/P14-9008. PMID: 24366402
Moyer VA; U.S. Preventive Services Task Force
Ann Intern Med 2014 Feb 18;160(4):271-81. Epub 2013 Dec 24 doi: 10.7326/M13-2747. PMID: 24366376
Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, Zakher B
Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Dec; PMID: 24432435Books & Documents
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T
J Genet Couns 2013 Apr;22(2):155-63. Epub 2012 Nov 28 doi: 10.1007/s10897-012-9547-1. [Epub ahead of print] PMID: 23188549
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology
J Clin Oncol 2010 Feb 10;28(5):893-901. Epub 2010 Jan 11 doi: 10.1200/JCO.2009.27.0660. [Epub ahead of print] PMID: 20065170
American College of Obstetricians and Gynecologists; ACOG Committee on Practice Bulletins--Gynecology; ACOG Committee on Genetics; Society of Gynecologic Oncologists
Obstet Gynecol 2009 Apr;113(4):957-66. doi: 10.1097/AOG.0b013e3181a106d4. PMID: 19305347
Berliner JL, Fay AM; Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group
J Genet Couns 2007 Jun;16(3):241-60. Epub 2007 May 17 doi: 10.1007/s10897-007-9090-7. [Epub ahead of print] PMID: 17508274
Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, Morris E, Pisano E, Schnall M, Sener S, Smith RA, Warner E, Yaffe M, Andrews KS, Russell CA; American Cancer Society Breast Cancer Advisory Group
CA Cancer J Clin 2007 Mar-Apr;57(2):75-89. PMID: 17392385
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

External

National Comprehensive Cancer Network practice guidelines in oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian

Suggested Reading

PubMed

Phillips KA, Milne RL, Rookus MA, Daly MB, Antoniou AC, Peock S, Frost D, Easton DF, Ellis S, Friedlander ML, Buys SS, Andrieu N, Noguès C, Stoppa-Lyonnet D, Bonadona V, Pujol P, McLachlan SA, John EM, Hooning MJ, Seynaeve C, Tollenaar RA, Goldgar DE, Terry MB, Caldes T, Weideman PC, Andrulis IL, Singer CF, Birch K, Simard J, Southey MC, Olsson HL, Jakubowska A, Olah E, Gerdes AM, Foretova L, Hopper JL
J Clin Oncol 2013 Sep 1;31(25):3091-9. Epub 2013 Aug 5 doi: 10.1200/JCO.2012.47.8313. [Epub ahead of print] PMID: 23918944Free PMC Article
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t'veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR
JAMA 2010 Sep 1;304(9):967-75. doi: 10.1001/jama.2010.1237. PMID: 20810374Free PMC Article

Recent clinical studies

Etiology

Kwiatkowski F, Arbre M, Bidet Y, Laquet C, Uhrhammer N, Bignon YJ
PLoS One 2015;10(6):e0127363. Epub 2015 Jun 5 doi: 10.1371/journal.pone.0127363. PMID: 26047126Free PMC Article
Eccles BK, Copson ER, Cutress RI, Maishman T, Altman DG, Simmonds P, Gerty SM, Durcan L, Stanton L, Eccles DM; POSH Study Steering Group
Br J Surg 2015 Jul;102(8):924-35. Epub 2015 May 20 doi: 10.1002/bjs.9816. [Epub ahead of print] PMID: 25989914
Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A
Breast Cancer Res Treat 2014 Aug;147(1):133-43. Epub 2014 Aug 3 doi: 10.1007/s10549-014-3078-4. [Epub ahead of print] PMID: 25086635
Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U
BMC Cancer 2013 Jun 27;13:312. doi: 10.1186/1471-2407-13-312. [Epub ahead of print] PMID: 23806170Free PMC Article
Kwiatkowski F, Dessenne P, Laquet C, Petit MF, Bignon YJ
Eur J Hum Genet 2012 Feb;20(2):141-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.169. [Epub ahead of print] PMID: 21934710Free PMC Article

Diagnosis

Kwiatkowski F, Arbre M, Bidet Y, Laquet C, Uhrhammer N, Bignon YJ
PLoS One 2015;10(6):e0127363. Epub 2015 Jun 5 doi: 10.1371/journal.pone.0127363. PMID: 26047126Free PMC Article
Eccles BK, Copson ER, Cutress RI, Maishman T, Altman DG, Simmonds P, Gerty SM, Durcan L, Stanton L, Eccles DM; POSH Study Steering Group
Br J Surg 2015 Jul;102(8):924-35. Epub 2015 May 20 doi: 10.1002/bjs.9816. [Epub ahead of print] PMID: 25989914
Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A
Breast Cancer Res Treat 2014 Aug;147(1):133-43. Epub 2014 Aug 3 doi: 10.1007/s10549-014-3078-4. [Epub ahead of print] PMID: 25086635
Hirasawa A, Masuda K, Akahane T, Ueki A, Yokota M, Tsuruta T, Nomura H, Kataoka F, Tominaga E, Banno K, Makita K, Susumu N, Sugano K, Kosaki K, Kameyama K, Aoki D
Jpn J Clin Oncol 2014 Jan;44(1):49-56. Epub 2013 Nov 11 doi: 10.1093/jjco/hyt171. [Epub ahead of print] PMID: 24218521
Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ
Int J Med Sci 2013;10(1):60-7. Epub 2012 Dec 10 doi: 10.7150/ijms.5014. PMID: 23289006Free PMC Article

Therapy

Das U, Lakshmaiah KC, Govind Babu K, Suresh TM, Lokanatha D, Jacob L, Babu S
J Cancer Res Clin Oncol 2014 Oct;140(10):1777-82. Epub 2014 Jun 4 doi: 10.1007/s00432-014-1724-1. [Epub ahead of print] PMID: 24894013
Bui KT, Wakefield CE, Kasparian NA, Tyler J, Abbott J, Tucker K
Psychooncology 2013 Jan;22(1):228-32. Epub 2011 Sep 9 doi: 10.1002/pon.2049. [Epub ahead of print] PMID: 21905159
Kwiatkowski F, Dessenne P, Laquet C, Petit MF, Bignon YJ
Eur J Hum Genet 2012 Feb;20(2):141-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.169. [Epub ahead of print] PMID: 21934710Free PMC Article
Watson E, Clements A, Yudkin P, Rose P, Bukach C, Mackay J, Lucassen A, Austoker J
Br J Gen Pract 2001 Oct;51(471):817-21. PMID: 11677705Free PMC Article
Bajdik CD, Raboud JM, Schechter MT, McGillivray BC, Gallagher RP
Math Biosci 2001 May;171(1):99-111. PMID: 11325386

Prognosis

Eccles BK, Copson ER, Cutress RI, Maishman T, Altman DG, Simmonds P, Gerty SM, Durcan L, Stanton L, Eccles DM; POSH Study Steering Group
Br J Surg 2015 Jul;102(8):924-35. Epub 2015 May 20 doi: 10.1002/bjs.9816. [Epub ahead of print] PMID: 25989914
Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A
Breast Cancer Res Treat 2014 Aug;147(1):133-43. Epub 2014 Aug 3 doi: 10.1007/s10549-014-3078-4. [Epub ahead of print] PMID: 25086635
Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo Á, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A
PLoS One 2013;8(7):e67538. Epub 2013 Jul 23 doi: 10.1371/journal.pone.0067538. PMID: 23935836Free PMC Article
Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O
J Cancer Res Clin Oncol 2013 Mar;139(3):529-32. Epub 2013 Feb 1 doi: 10.1007/s00432-013-1385-5. [Epub ahead of print] PMID: 23371468
Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ
Int J Med Sci 2013;10(1):60-7. Epub 2012 Dec 10 doi: 10.7150/ijms.5014. PMID: 23289006Free PMC Article

Clinical prediction guides

Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A
Breast Cancer Res Treat 2014 Aug;147(1):133-43. Epub 2014 Aug 3 doi: 10.1007/s10549-014-3078-4. [Epub ahead of print] PMID: 25086635
Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo Á, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A
PLoS One 2013;8(7):e67538. Epub 2013 Jul 23 doi: 10.1371/journal.pone.0067538. PMID: 23935836Free PMC Article
Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O
J Cancer Res Clin Oncol 2013 Mar;139(3):529-32. Epub 2013 Feb 1 doi: 10.1007/s00432-013-1385-5. [Epub ahead of print] PMID: 23371468
Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ
Int J Med Sci 2013;10(1):60-7. Epub 2012 Dec 10 doi: 10.7150/ijms.5014. PMID: 23289006Free PMC Article
Kwiatkowski F, Dessenne P, Laquet C, Petit MF, Bignon YJ
Eur J Hum Genet 2012 Feb;20(2):141-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.169. [Epub ahead of print] PMID: 21934710Free PMC Article

Recent systematic reviews

Lancaster JM, Powell CB, Chen LM, Richardson DL; SGO Clinical Practice Committee
Gynecol Oncol 2015 Jan;136(1):3-7. Epub 2014 Sep 17 doi: 10.1016/j.ygyno.2014.09.009. [Epub ahead of print] PMID: 25238946
Sherman KA, Kasparian NA, Mireskandari S
Psychooncology 2010 Jan;19(1):1-11. doi: 10.1002/pon.1582. PMID: 19472298
Levy DE, Garber JE, Shields AE
J Gen Intern Med 2009 Jul;24(7):822-8. Epub 2009 May 20 doi: 10.1007/s11606-009-1009-6. [Epub ahead of print] PMID: 19455369Free PMC Article

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