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Breast-ovarian cancer, familial 2(BROVCA2)

MedGen UID:
382625
Concept ID:
C2675520
Finding
Synonyms: BRCA2 Hereditary Breast and Ovarian Cancer; Breast cancer, familial 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
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): BRCA2 (13q13.1)
OMIM®: 612555

Disease characteristics

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The exact cancer risks differ slightly depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from GeneReviews]
Authors:
Nancie Petrucelli  |  Mary B Daly  |  Tuya Pal   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 14,000 women annually in the United States, 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.

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. PMID: 25394175
ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. 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. 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. 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. 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. PMID: 23188549
Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, Nio Y, Schulick RS, Bassi C, Kluijt I, Levy MJ, Chak A, Fockens P, Goggins M, Bruno M; International Cancer of Pancreas Screening (CAPS) Consortium.
Gut 2013 Mar;62(3):339-47. Epub 2012 Nov 7 doi: 10.1136/gutjnl-2012-303108. PMID: 23135763Free PMC Article
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. 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. 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

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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. 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

Kwong A, Chen JW, Shin VY
Hong Kong Med J 2016 Apr;22(2):171-7. Epub 2016 Mar 14 doi: 10.12809/hkmj154634. PMID: 26980575
Cao WM, Gao Y, Yang HJ, Xie SN, Ding XW, Pan ZW, Ye WW, Wang XJ
BMC Cancer 2016 Feb 6;16:64. doi: 10.1186/s12885-016-2107-6. PMID: 26852015Free PMC Article
Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U
BMC Cancer 2013 Jun 27;13:312. doi: 10.1186/1471-2407-13-312. PMID: 23806170Free PMC Article
Pelttari LM, Kiiski J, Nurminen R, Kallioniemi A, Schleutker J, Gylfe A, Aaltonen LA, Leminen A, Heikkilä P, Blomqvist C, Bützow R, Aittomäki K, Nevanlinna H
J Med Genet 2012 Jul;49(7):429-32. Epub 2012 May 31 doi: 10.1136/jmedgenet-2012-100852. PMID: 22652533
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. PMID: 21934710Free PMC Article

Diagnosis

Riahi A, Ghourabi ME, Fourati A, Chaabouni-Bouhamed H
Breast Cancer 2017 Mar;24(2):238-244. Epub 2016 Mar 30 doi: 10.1007/s12282-016-0693-4. PMID: 27025497
Kwong A, Chen JW, Shin VY
Hong Kong Med J 2016 Apr;22(2):171-7. Epub 2016 Mar 14 doi: 10.12809/hkmj154634. PMID: 26980575
Yablonski-Peretz T, Paluch-Shimon S, Gutman LS, Kaplan Y, Dvir A, Barnes-Kedar I, Kadouri L, Semenisty V, Efrat N, Neiman V, Glasser Y, Michaelson-Cohen R, Katz L, Kaufman B, Golan T, Reish O, Hubert A, Safra T, Yaron Y, Friedman E
Breast Cancer Res Treat 2016 Jan;155(1):133-8. Epub 2015 Dec 19 doi: 10.1007/s10549-015-3662-2. PMID: 26687385
Delgado L, Fernández G, Grotiuz G, Cataldi S, González A, Lluveras N, Heguaburu M, Fresco R, Lens D, Sabini G, Muse IM
Breast Cancer Res Treat 2011 Jul;128(1):211-8. Epub 2010 Dec 29 doi: 10.1007/s10549-010-1320-2. PMID: 21190077
Scheuner MT, McNeel TS, Freedman AN
Genet Med 2010 Nov;12(11):726-35. doi: 10.1097/GIM.0b013e3181f30e9e. PMID: 20921897

Therapy

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. PMID: 21934710Free PMC Article
Roukos DH, Briasoulis E
Nat Clin Pract Oncol 2007 Oct;4(10):578-90. doi: 10.1038/ncponc0930. PMID: 17898808
Wideroff L, Vadaparampil ST, Greene MH, Taplin S, Olson L, Freedman AN
J Med Genet 2005 Oct;42(10):749-55. Epub 2005 Mar 22 doi: 10.1136/jmg.2004.030296. PMID: 15784723Free PMC Article
Watson E, Clements A, Yudkin P, Rose P, Bukach C, Mackay J, Lucassen A, Austoker J
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Bajdik CD, Raboud JM, Schechter MT, McGillivray BC, Gallagher RP
Math Biosci 2001 May;171(1):99-111. PMID: 11325386

Prognosis

Cao WM, Gao Y, Yang HJ, Xie SN, Ding XW, Pan ZW, Ye WW, Wang XJ
BMC Cancer 2016 Feb 6;16:64. doi: 10.1186/s12885-016-2107-6. PMID: 26852015Free PMC Article
Krivokuca A, Yanowski K, Rakobradovic J, Benitez J, Brankovic-Magic M
Cancer Biomark 2015;15(6):775-81. doi: 10.3233/CBM-150519. PMID: 26406419
Riahi A, Kharrat M, Ghourabi ME, Khomsi F, Gamoudi A, Lariani I, May AE, Rahal K, Chaabouni-Bouhamed H
Clin Genet 2015 Feb;87(2):155-60. Epub 2014 Feb 23 doi: 10.1111/cge.12337. PMID: 24372583
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, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O
Gynecol Oncol 2013 Nov;131(2):460-3. Epub 2013 Jul 31 doi: 10.1016/j.ygyno.2013.07.104. PMID: 23911796

Clinical prediction guides

Cao WM, Gao Y, Yang HJ, Xie SN, Ding XW, Pan ZW, Ye WW, Wang XJ
BMC Cancer 2016 Feb 6;16:64. doi: 10.1186/s12885-016-2107-6. PMID: 26852015Free PMC Article
Zhang X, Wang T, Wang W, Ding Y, Zhou L, Chen Q, Gao X, Wu Y, Mei Y, Jin Y, Gao Q, Yi L
Gene 2015 Dec 1;573(2):333-7. Epub 2015 Sep 4 doi: 10.1016/j.gene.2015.08.069. PMID: 26344711
Riahi A, Kharrat M, Ghourabi ME, Khomsi F, Gamoudi A, Lariani I, May AE, Rahal K, Chaabouni-Bouhamed H
Clin Genet 2015 Feb;87(2):155-60. Epub 2014 Feb 23 doi: 10.1111/cge.12337. PMID: 24372583
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
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. PMID: 21934710Free PMC Article

Recent systematic reviews

Kwong A, Chen JW, Shin VY
Hong Kong Med J 2016 Apr;22(2):171-7. Epub 2016 Mar 14 doi: 10.12809/hkmj154634. PMID: 26980575
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. PMID: 19455369Free PMC Article
Chen WY, Garber JE, Higham S, Schneider KA, Davis KB, Deffenbaugh AM, Frank TS, Gelman RS, Li FP
J Clin Oncol 2002 Nov 15;20(22):4485-92. doi: 10.1200/JCO.2002.08.147. PMID: 12431973

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