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Hereditary breast ovarian cancer syndrome

MedGen UID:
151793
Concept ID:
C0677776
Neoplastic Process
Synonyms: Breast and ovarian cancer; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary breast and/or ovarian cancer syndrome
SNOMED CT: Hereditary breast and ovarian cancer syndrome (718220008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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.
 
Genes (locations): BRCA1 (17q21.31); BRCA2 (13q13.1)
Related genes: RAD51D, RAD51C
 
Monarch Initiative: MONDO:0003582
Orphanet: ORPHA145

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

Professional guidelines

PubMed

Ferriss JS, Erickson BK, Shih IM, Fader AN
Int J Gynecol Cancer 2021 Aug;31(8):1165-1174. Epub 2021 Jul 1 doi: 10.1136/ijgc-2021-002753. PMID: 34210768
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Marshall M, Solomon S
Plast Surg Nurs 2007 Jul-Sep;27(3):124-7. doi: 10.1097/01.PSN.0000290280.48197.e7. PMID: 17901820

Curated

UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023

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

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

Suggested Reading

PubMed

Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L
Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug; PMID: 31479213Books & Documents
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
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
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE
Sci Rep 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3. PMID: 36329109Free PMC Article
Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ
Am J Pathol 2019 Jan;189(1):22-35. doi: 10.1016/j.ajpath.2018.09.013. PMID: 30558719
Rustgi AK
Genes Dev 2014 Jan 1;28(1):1-7. doi: 10.1101/gad.228452.113. PMID: 24395243Free PMC Article
Ozanne EM, Loberg A, Hughes S, Lawrence C, Drohan B, Semine A, Jellinek M, Cronin C, Milham F, Dowd D, Block C, Lockhart D, Sharko J, Grinstein G, Hughes KS
Breast J 2009 Mar-Apr;15(2):155-62. doi: 10.1111/j.1524-4741.2009.00690.x. PMID: 19292801
Casey MJ, Bewtra C, Hoehne LL, Tatpati AD, Lynch HT, Watson P
Gynecol Oncol 2000 Sep;78(3 Pt 1):278-87. doi: 10.1006/gyno.2000.5861. PMID: 10985881

Diagnosis

Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE
Sci Rep 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3. PMID: 36329109Free PMC Article
Ferriss JS, Erickson BK, Shih IM, Fader AN
Int J Gynecol Cancer 2021 Aug;31(8):1165-1174. Epub 2021 Jul 1 doi: 10.1136/ijgc-2021-002753. PMID: 34210768
Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ
Am J Pathol 2019 Jan;189(1):22-35. doi: 10.1016/j.ajpath.2018.09.013. PMID: 30558719
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Santos C, Peixoto A, Rocha P, Pinto P, Bizarro S, Pinheiro M, Pinto C, Henrique R, Teixeira MR
J Mol Diagn 2014 May;16(3):324-34. Epub 2014 Mar 5 doi: 10.1016/j.jmoldx.2014.01.005. PMID: 24607278

Therapy

Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Bruchim I, Amichay K, Kidron D, Attias Z, Biron-Shental T, Drucker L, Friedman E, Werner H, Fishman A
Int J Gynecol Cancer 2010 Oct;20(7):1148-53. doi: 10.1111/IGC.0b013e3181ef622d. PMID: 21206239
Drew Y, Calvert H
Ann N Y Acad Sci 2008 Sep;1138:136-45. doi: 10.1196/annals.1414.020. PMID: 18837894
Roukos DH, Briasoulis E
Nat Clin Pract Oncol 2007 Oct;4(10):578-90. doi: 10.1038/ncponc0930. PMID: 17898808
Levine DA, Gemignani ML
Oncology (Williston Park) 2003 Jul;17(7):932-41; discussion 946-8, 950-2. PMID: 12886864

Prognosis

Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE
Sci Rep 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3. PMID: 36329109Free PMC Article
Ferriss JS, Erickson BK, Shih IM, Fader AN
Int J Gynecol Cancer 2021 Aug;31(8):1165-1174. Epub 2021 Jul 1 doi: 10.1136/ijgc-2021-002753. PMID: 34210768
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Rustgi AK
Genes Dev 2014 Jan 1;28(1):1-7. doi: 10.1101/gad.228452.113. PMID: 24395243Free PMC Article

Clinical prediction guides

Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE
Sci Rep 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3. PMID: 36329109Free PMC Article
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Menczer J, Chetrit A, Barda G, Lubin F, Fishler Y, Altaras M, Levavi H, Struewing JP, Sadetzki S, Modan B
Gynecol Oncol 2003 Jan;88(1):58-61. doi: 10.1006/gyno.2002.6853. PMID: 12504628
Liede A, Tonin PN, Sun CC, Serruya C, Daly MB, Narod SA, Foulkes WD
Am J Med Genet 1998 Jan 6;75(1):55-8. doi: 10.1002/(sici)1096-8628(19980106)75:1<55::aid-ajmg12>3.0.co;2-r. PMID: 9450858
Lynch HT, Lynch JF
Curr Probl Cancer 1996 Nov-Dec;20(6):329-65. doi: 10.1016/s0147-0272(96)80010-9. PMID: 8976406

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023
    • NICE, 2023
      UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023
    • NCCN, 2022
      NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

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