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Article: Cancer risks associated with BRCA1 and BRCA2 pathogenic variants

TitleCancer risks associated with BRCA1 and BRCA2 pathogenic variants
Authors
Issue Date2022
PublisherAmerican Society of Clinical Oncology. The Journal's web site is located at http://www.jco.org/
Citation
Journal of Clinical Oncology, 2022, v. 40 n. 14, p. 1529-1541 How to Cite?
AbstractPurpose: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. Methods: We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. Results: BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. Conclusion: In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.
DescriptionOpen Access Journal
Persistent Identifierhttp://hdl.handle.net/10722/311326
ISSN
2023 Impact Factor: 42.1
2023 SCImago Journal Rankings: 10.639
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLi, S-
dc.contributor.authorSilvestri, V-
dc.contributor.authorLeslie, G-
dc.contributor.authorRebbeck, TR-
dc.contributor.authorNeuhausen, SL-
dc.contributor.authorHopper, JL-
dc.contributor.authorNielsen, HR-
dc.contributor.authorLee, A-
dc.contributor.authorYang, X-
dc.contributor.authorMcGuffog, L-
dc.contributor.authorParsons, MT-
dc.contributor.authorAndrulis, IL-
dc.contributor.authorArnold, N-
dc.contributor.authorBelotti, M-
dc.contributor.authorKwong, A-
dc.date.accessioned2022-03-21T08:48:06Z-
dc.date.available2022-03-21T08:48:06Z-
dc.date.issued2022-
dc.identifier.citationJournal of Clinical Oncology, 2022, v. 40 n. 14, p. 1529-1541-
dc.identifier.issn0732-183X-
dc.identifier.urihttp://hdl.handle.net/10722/311326-
dc.descriptionOpen Access Journal-
dc.description.abstractPurpose: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. Methods: We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. Results: BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. Conclusion: In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.-
dc.languageeng-
dc.publisherAmerican Society of Clinical Oncology. The Journal's web site is located at http://www.jco.org/-
dc.relation.ispartofJournal of Clinical Oncology-
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License-
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License-
dc.titleCancer risks associated with BRCA1 and BRCA2 pathogenic variants-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1200/JCO.21.02112-
dc.identifier.pmid35077220-
dc.identifier.pmcidPMC9084432-
dc.identifier.hkuros332140-
dc.identifier.volume40-
dc.identifier.issue14-
dc.identifier.spage1529-
dc.identifier.epage1541-
dc.identifier.isiWOS:000834629700005-
dc.publisher.placeUnited States-

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