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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
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.

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.
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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.
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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.
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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.
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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

Rashid MU, Muhammad N, Amin A, Loya A, Hamann U
Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754
Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A
Int J Cancer 2017 Jan 1;140(1):95-102. Epub 2016 Sep 23 doi: 10.1002/ijc.30428. PMID: 27616075
Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG
Eur J Hum Genet 2016 Nov;24(11):1591-1597. Epub 2016 Jun 8 doi: 10.1038/ejhg.2016.57. PMID: 27273131Free PMC Article
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

Diagnosis

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; BRCA1 and BRCA2 Cohort Consortium., McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H
JAMA 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112. PMID: 28632866
Rashid MU, Muhammad N, Amin A, Loya A, Hamann U
Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754
Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A
Int J Cancer 2017 Jan 1;140(1):95-102. Epub 2016 Sep 23 doi: 10.1002/ijc.30428. PMID: 27616075
Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG
Eur J Hum Genet 2016 Nov;24(11):1591-1597. Epub 2016 Jun 8 doi: 10.1038/ejhg.2016.57. PMID: 27273131Free PMC Article
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

Therapy

Jamard E, Volard B, Dugué AE, Legros A, Leconte A, Clarisse B, Davy G, Polycarpe F, Dugast C, Abadie C, Frebourg T, Tinat J, Tennevet I, Layet V, Joly F, Castéra L, Berthet P, Vaur D, Krieger S
Fam Cancer 2017 Apr;16(2):167-171. doi: 10.1007/s10689-016-9940-2. PMID: 27783335
Kwiatkowski F, Dessenne P, Laquet C, Daures JP, Gay-Bellile M, Bignon YJ
Trials 2016 Oct 21;17(1):509. doi: 10.1186/s13063-016-1642-4. PMID: 27769293Free PMC Article
Jacobs AS, Schwartz MD, Valdimarsdottir H, Nusbaum RH, Hooker GW, DeMarco TA, Heinzmann JE, McKinnon W, McCormick SR, Davis C, Forman AD, Lebensohn AP, Dalton E, Tully DM, Graves KD, Similuk M, Kelly S, Peshkin BN
Fam Cancer 2016 Oct;15(4):529-39. doi: 10.1007/s10689-016-9900-x. PMID: 26969308Free 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
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

Prognosis

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; BRCA1 and BRCA2 Cohort Consortium., McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H
JAMA 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112. PMID: 28632866
Menendez JA, Folguera-Blasco N, Cuyàs E, Fernández-Arroyo S, Joven J, Alarcón T
Oncotarget 2016 Mar 15;7(11):11959-71. doi: 10.18632/oncotarget.7867. PMID: 26943589Free PMC Article
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
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

Clinical prediction guides

Rashid MU, Muhammad N, Amin A, Loya A, Hamann U
Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754
Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG
Eur J Hum Genet 2016 Nov;24(11):1591-1597. Epub 2016 Jun 8 doi: 10.1038/ejhg.2016.57. PMID: 27273131Free PMC Article
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
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

D'Andrea E, Marzuillo C, De Vito C, Di Marco M, Pitini E, Vacchio MR, Villari P
Genet Med 2016 Dec;18(12):1171-1180. Epub 2016 Apr 14 doi: 10.1038/gim.2016.29. PMID: 27906166Free PMC Article
Madorsky-Feldman D, Sklair-Levy M, Perri T, Laitman Y, Paluch-Shimon S, Schmutzler R, Rhiem K, Lester J, Karlan BY, Singer CF, Van Maerken T, Claes K, Brunet J, Izquierdo A, Teulé A, Lee JW, Kim SW, Arun B, Jakubowska A, Lubinski J, Tucker K, Poplawski NK, Varesco L, Bonelli LA, Buys SS, Mitchell G, Tischkowitz M, Gerdes AM, Seynaeve C, Robson M, Kwong A, Tung N, Tessa N, Domchek SM, Godwin AK, Rantala J, Arver B, Friedman E
Breast Cancer Res Treat 2016 Jun;157(2):319-327. Epub 2016 Apr 27 doi: 10.1007/s10549-016-3805-0. PMID: 27117159Free PMC Article
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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