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Breast-ovarian cancer, familial, susceptibility to, 5(BROVCA5)

MedGen UID:
1841251
•Concept ID:
C5830615
•
Finding
Synonym: BROVCA5
 
Gene (location): PALB2 (16p12.2)
 
Monarch Initiative: MONDO:0957530
OMIM®: 620442

Definition

Individuals with mutation in the PALB2 gene have an increased risk of developing breast or, to a lesser degree, ovarian cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., male breast cancer and pancreatic cancer (PNCA3; 613348) (Rahman et al., 2007; Norquist et al., 2018; Yang et al., 2020). For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Reviews Hamdan and Nowak (2023) reviewed the structure and function of the PALB2 gene, and its role in disease, including Fanconi anemia (FANCN; 610832), pancreatic cancer (PNCA3; 613348), and breast and ovarian cancer. [from OMIM]

Clinical features

From HPO
Breast carcinoma
MedGen UID:
146260
•Concept ID:
C0678222
•
Neoplastic Process
The presence of a carcinoma of the breast.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.
Desai NV, Barrows ED, Nielsen SM, Hatchell KE, Anderson MJ, Haverfield EV, Herrera B, Esplin ED, Lucassen A, Tung NM, Isaacs C
JCO Precis Oncol 2023 Aug;7:e2200695. doi: 10.1200/PO.22.00695. PMID: 37535880Free PMC Article
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
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
JAMA 2019 Aug 20;322(7):652-665. doi: 10.1001/jama.2019.10987. PMID: 31429903
Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ
Mayo Clin Proc 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017. PMID: 31171119

Recent clinical studies

Etiology

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N
Aging (Albany NY) 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. PMID: 32091409Free PMC Article
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
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
JAMA 2019 Aug 20;322(7):652-665. doi: 10.1001/jama.2019.10987. PMID: 31429903
Current Approaches to Pancreatic Cancer Screening.
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
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL
Am J Hum Genet 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024. PMID: 27153395Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article

Diagnosis

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
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
JAMA 2019 Aug 20;322(7):652-665. doi: 10.1001/jama.2019.10987. PMID: 31429903
Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ
Mayo Clin Proc 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017. PMID: 31171119
Current Approaches to Pancreatic Cancer Screening.
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
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Breast cancer genetics: family history, heterogeneity, molecular genetic diagnosis, and genetic counselling.
Lynch HT, Lynch JF
Curr Probl Cancer 1996 Nov-Dec;20(6):329-65. doi: 10.1016/s0147-0272(96)80010-9. PMID: 8976406

Therapy

Identification of women at risk of hereditary breast-ovarian cancer among participants in a population-based breast cancer screening.
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
Uptake and Predictors of Opportunistic Salpingectomy for Ovarian Cancer Risk Reduction in the United States.
Karia PS, Joshu CE, Visvanathan K
Cancer Prev Res (Phila) 2021 Dec;14(12):1101-1110. Epub 2021 Aug 19 doi: 10.1158/1940-6207.CAPR-21-0121. PMID: 34413116Free PMC Article
Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC).
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
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.
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
Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians.
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

Prognosis

Uptake and Predictors of Opportunistic Salpingectomy for Ovarian Cancer Risk Reduction in the United States.
Karia PS, Joshu CE, Visvanathan K
Cancer Prev Res (Phila) 2021 Dec;14(12):1101-1110. Epub 2021 Aug 19 doi: 10.1158/1940-6207.CAPR-21-0121. PMID: 34413116Free PMC Article
A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results.
Cortesi L, Baldassarri B, Ferretti S, Razzaboni E, Bella M, Bucchi L, Canuti D, De Iaco P, De Santis G, Falcini F, Galli V, Godino L, Leoni M, Perrone AM, Pignatti M, Saguatti G, Santini D, Sassoli de'Bianchi P, Sebastiani F, Taffurelli M, Tazzioli G, Turchetti D, Zamagni C, Naldoni C
Cancer Med 2020 Apr;9(7):2579-2589. Epub 2020 Feb 11 doi: 10.1002/cam4.2824. PMID: 32045136Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Familial pancreatic carcinoma in Jews.
Lynch HT, Deters CA, Lynch JF, Brand RE
Fam Cancer 2004;3(3-4):233-40. doi: 10.1007/s10689-004-9549-8. PMID: 15516847
Breast cancer genetics: family history, heterogeneity, molecular genetic diagnosis, and genetic counselling.
Lynch HT, Lynch JF
Curr Probl Cancer 1996 Nov-Dec;20(6):329-65. doi: 10.1016/s0147-0272(96)80010-9. PMID: 8976406

Clinical prediction guides

Genetic testing for hereditary predisposition to breast cancer in the real world: Initial experience.
da Silva Fontinele DR, Assunção Ribeiro da Costa RE, da Silva Magalhães MK, Vieira SC
Breast Dis 2022;41(1):249-254. doi: 10.3233/BD-210082. PMID: 35570472
Uptake and Predictors of Opportunistic Salpingectomy for Ovarian Cancer Risk Reduction in the United States.
Karia PS, Joshu CE, Visvanathan K
Cancer Prev Res (Phila) 2021 Dec;14(12):1101-1110. Epub 2021 Aug 19 doi: 10.1158/1940-6207.CAPR-21-0121. PMID: 34413116Free PMC Article
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D
Genet Med 2021 Oct;23(10):1969-1976. Epub 2021 Jun 10 doi: 10.1038/s41436-021-01234-6. PMID: 34113003Free PMC Article
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Breast cancer genetics: family history, heterogeneity, molecular genetic diagnosis, and genetic counselling.
Lynch HT, Lynch JF
Curr Probl Cancer 1996 Nov-Dec;20(6):329-65. doi: 10.1016/s0147-0272(96)80010-9. PMID: 8976406

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