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dc.contributor.authorAhearn, Thomas U
dc.contributor.authorChoudhury, Parichoy Pal
dc.contributor.authorDerkach, Andriy
dc.contributor.authorWiafe-Addai, Beatrice
dc.contributor.authorAwuah, Baffour
dc.contributor.authorYarney, Joel
dc.contributor.authorEdusei, Lawrence
dc.contributor.authorTitiloye, Nicholas
dc.contributor.authorAdjei, Ernest
dc.contributor.authorVanderpuye, Verna
dc.contributor.authorAitpillah, Francis
dc.contributor.authorDedey, Florence
dc.contributor.authorOppong, Joseph
dc.contributor.authorOsei-Bonsu, Ernest Baawuah
dc.contributor.authorDuggan, Máire A
dc.contributor.authorBrinton, Louise A
dc.contributor.authorAllen, Jamie
dc.contributor.authorLuccarini, Craig
dc.contributor.authorBaynes, Caroline
dc.contributor.authorCarvalho, Sara
dc.contributor.authorDunning, Alison M
dc.contributor.authorDavis Lynn, Brittny C
dc.contributor.authorChanock, Stephen J
dc.contributor.authorHicks, Belynda D
dc.contributor.authorYeager, Meredith
dc.contributor.authorChatterjee, Nilanjan
dc.contributor.authorBiritwum, Richard
dc.contributor.authorClegg-Lamptey, Joe Nat
dc.contributor.authorNyarko, Kofi
dc.contributor.authorWiafe, Seth
dc.contributor.authorAnsong, Daniel
dc.contributor.authorEaston, Douglas F
dc.contributor.authorFigueroa, Jonine D
dc.contributor.authorGarcia-Closas, Montserrat
dc.date.accessioned2022-04-07T23:30:30Z
dc.date.available2022-04-07T23:30:30Z
dc.date.issued2022-08-02
dc.identifier.issn1055-9965
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/335899
dc.description.abstractBACKGROUND: Risk estimates for women carrying germline mutations in breast cancer susceptibility genes are mainly based on studies of European ancestry women. METHODS: We investigated associations between pathogenic variants (PV) in 34 genes with breast cancer risk in 871 cases [307 estrogen receptor (ER)-positive, 321 ER-negative, and 243 ER-unknown] and 1,563 controls in the Ghana Breast Health Study (GBHS), and estimated lifetime risk for carriers. We compared results with those for European, Asian, and African American ancestry women. RESULTS: The frequency of PV in GBHS for nine breast cancer genes was 8.38% in cases and 1.22% in controls. Relative risk estimates for overall breast cancer were: (OR, 13.70; 95% confidence interval (CI), 4.03-46.51) for BRCA1, (OR, 7.02; 95% CI, 3.17-15.54) for BRCA2, (OR, 17.25; 95% CI, 2.15-138.13) for PALB2, 5 cases and no controls carried TP53 PVs, and 2.10, (0.72-6.14) for moderate-risk genes combined (ATM, BARD1, CHEK2, RAD51C, RAD52D). These estimates were similar to those previously reported in other populations and were modified by ER status. No other genes evaluated had mutations associated at P < 0.05 with overall risk. The estimated lifetime risks for mutation carriers in BRCA1, BRCA2, and PALB2 and moderate-risk genes were 18.4%, 9.8%, 22.4%, and 3.1%, respectively, markedly lower than in Western populations with higher baseline risks. CONCLUSIONS: We confirmed associations between PV and breast cancer risk in Ghanaian women and provide absolute risk estimates that could inform counseling in Ghana and other West African countries. IMPACT: These findings have direct relevance for breast cancer genetic counseling for women in West Africa.
dc.publisherAmerican Association for Cancer Research (AACR)
dc.rightsAll Rights Reserved
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserved
dc.titleBreast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
dc.typeArticle
dc.publisher.departmentDepartment of Public Health And Primary Care, Cancer Genetic Epidemiology
dc.date.updated2022-04-07T12:51:16Z
prism.publicationNameCancer Epidemiol Biomarkers Prev
dc.identifier.doi10.17863/CAM.83333
dcterms.dateAccepted2022-05-25
rioxxterms.versionofrecord10.1158/1055-9965.EPI-21-1397
rioxxterms.versionAM
dc.contributor.orcidAhearn, Thomas U [0000-0003-0771-7752]
dc.contributor.orcidDerkach, Andriy [0000-0003-2178-8493]
dc.contributor.orcidTitiloye, Nicholas [0000-0001-7578-5859]
dc.contributor.orcidAdjei, Ernest [0000-0002-4004-3334]
dc.contributor.orcidAitpillah, Francis [0000-0001-9495-6887]
dc.contributor.orcidDedey, Florence [0000-0001-6806-9256]
dc.contributor.orcidOppong, Joseph [0000-0003-2455-2734]
dc.contributor.orcidOsei-Bonsu, Ernest Baawuah [0000-0002-3657-3519]
dc.contributor.orcidDuggan, Máire A [0000-0001-6625-7683]
dc.contributor.orcidBrinton, Louise A [0000-0003-3853-8562]
dc.contributor.orcidAllen, Jamie [0000-0002-8677-2225]
dc.contributor.orcidCarvalho, Sara [0000-0002-5512-4540]
dc.contributor.orcidDunning, Alison M [0000-0001-6651-7166]
dc.contributor.orcidChanock, Stephen J [0000-0002-2324-3393]
dc.contributor.orcidHicks, Belynda D [0000-0001-8014-4888]
dc.contributor.orcidBiritwum, Richard [0000-0002-0025-7354]
dc.contributor.orcidClegg-Lamptey, Joe Nat [0000-0003-0497-071X]
dc.contributor.orcidWiafe, Seth [0000-0001-6085-9405]
dc.contributor.orcidAnsong, Daniel [0000-0003-1328-9117]
dc.contributor.orcidGarcia-Closas, Montserrat [0000-0003-1033-2650]
dc.identifier.eissn1538-7755
rioxxterms.typeJournal Article/Review
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (634935)
pubs.funder-project-idWellcome Trust (203477/Z/16/Z)
cam.issuedOnline2022-06-02
cam.orpheus.successWed Jun 08 08:57:09 BST 2022 - Embargo updated
cam.orpheus.counter3
cam.depositDate2022-04-07
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement
rioxxterms.freetoread.startdate2023-06-02


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