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Breast-ovarian cancer, familial, susceptibility to, 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 1; OVARIAN CANCER, SUSCEPTIBILITY TO
 
Gene (location): BRCA1 (17q21.31)
 
Monarch Initiative: MONDO:0011450
OMIM®: 604370

Disease characteristics

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including 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 risk of developing an associated cancer varies 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

Clinical features

From HPO
Neoplasm of ovary
MedGen UID:
181539
Concept ID:
C0919267
Neoplastic Process
Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Professional guidelines

PubMed

Berliner JL, Cummings SA, Boldt Burnett B, Ricker CN
J Genet Couns 2021 Apr;30(2):342-360. Epub 2021 Jan 7 doi: 10.1002/jgc4.1374. PMID: 33410258
US Preventive Services Task Force., Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, Caughey AB, Doubeni CA, Epling JW Jr, Kubik M, Landefeld CS, Mangione CM, Pbert L, Silverstein M, Simon MA, Tseng CW, Wong JB
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J Clin Oncol 2015 Nov 1;33(31):3660-7. Epub 2015 Aug 31 doi: 10.1200/JCO.2015.63.0996. PMID: 26324357
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
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
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
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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. doi: 10.3322/canjclin.57.2.75. 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

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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.

Suggested Reading

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Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Dec; PMID: 24432435Books & Documents
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
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PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Bonelli L, Valle I, Rebora I, Ricci P, Biocchi L, Bruschi G, Parodi S, Bruzzone C, Varesco L
Fam Cancer 2022 Jul;21(3):309-318. Epub 2021 Oct 20 doi: 10.1007/s10689-021-00281-x. PMID: 34669096
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Cancer Med 2019 May;8(5):2074-2084. Epub 2019 Apr 13 doi: 10.1002/cam4.2093. PMID: 30982232Free PMC Article
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Cancer Res Treat 2019 Jul;51(3):992-1000. Epub 2018 Oct 11 doi: 10.4143/crt.2018.356. PMID: 30309218Free PMC Article
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

Diagnosis

Bonelli L, Valle I, Rebora I, Ricci P, Biocchi L, Bruschi G, Parodi S, Bruzzone C, Varesco L
Fam Cancer 2022 Jul;21(3):309-318. Epub 2021 Oct 20 doi: 10.1007/s10689-021-00281-x. PMID: 34669096
Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M
Breast Cancer Res Treat 2021 Jul;188(1):237-248. Epub 2021 Mar 1 doi: 10.1007/s10549-021-06152-4. PMID: 33649982Free PMC Article
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Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754
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

Therapy

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Fam Cancer 2022 Jul;21(3):309-318. Epub 2021 Oct 20 doi: 10.1007/s10689-021-00281-x. PMID: 34669096
Zeinomar N, Knight JA, Genkinger JM, Phillips KA, Daly MB, Milne RL, Dite GS, Kehm RD, Liao Y, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators., Andrulis IL, Buys SS, John EM, MacInnis RJ, Hopper JL, Terry MB
Breast Cancer Res 2019 Nov 28;21(1):128. doi: 10.1186/s13058-019-1213-1. PMID: 31779655Free PMC Article
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Trials 2016 Oct 21;17(1):509. doi: 10.1186/s13063-016-1642-4. PMID: 27769293Free PMC Article
Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators., Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE., Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)., Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN; KConFab Investigators.; Australian Ovarian Cancer Study Group., Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA
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Prognosis

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Breast Cancer Res 2019 Nov 28;21(1):128. doi: 10.1186/s13058-019-1213-1. PMID: 31779655Free PMC Article
Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U
Cancer Res Treat 2019 Jul;51(3):992-1000. Epub 2018 Oct 11 doi: 10.4143/crt.2018.356. PMID: 30309218Free 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
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
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. PMID: 23371468

Clinical prediction guides

Zeinomar N, Knight JA, Genkinger JM, Phillips KA, Daly MB, Milne RL, Dite GS, Kehm RD, Liao Y, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators., Andrulis IL, Buys SS, John EM, MacInnis RJ, Hopper JL, Terry MB
Breast Cancer Res 2019 Nov 28;21(1):128. doi: 10.1186/s13058-019-1213-1. PMID: 31779655Free PMC Article
Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U
Cancer Res Treat 2019 Jul;51(3):992-1000. Epub 2018 Oct 11 doi: 10.4143/crt.2018.356. PMID: 30309218Free PMC Article
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
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
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. PMID: 23371468

Recent systematic reviews

Menko FH, Ter Stege JA, van der Kolk LE, Jeanson KN, Schats W, Moha DA, Bleiker EMA
Fam Cancer 2019 Jan;18(1):127-135. doi: 10.1007/s10689-018-0089-z. PMID: 29846880

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