Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

BRCA1/2; Càncer de mama; Genètica

Detalhes bibliográficos
Autores: Rookus, Matti A., McGuffog, Lesley, Mooij, Thea M., Balmaña Gelpí, Judith, Diez Gibert, Orland, Barnes, Daniel, Dennis, Joe, Leslie, Goska
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Recursos:Departament de Salut de la Generalitat de Catalunya (DS)
Repositorio:Scientia. Dipòsit d'Informació Digital del Departament de Salut
OAI Identifier:oai:scientiasalut.gencat.cat:11351/6487
Acesso em linha:https://hdl.handle.net/11351/6487
Access Level:acceso abierto
Palavra-chave:Mama - Càncer - Aspectes genètics
Ovaris - Càncer - Aspectes genètics
Diàtesi
DISEASES::Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
ENFERMEDADES::neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad
id ES_a68fae05ec9deb9524472436742a2dcd
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network_acronym_str ES
network_name_str España
repository_id_str
spelling Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variantsRookus, Matti A.McGuffog, LesleyMooij, Thea M.Balmaña Gelpí, JudithDiez Gibert, OrlandBarnes, DanielDennis, JoeLeslie, GoskaMama - Càncer - Aspectes genèticsOvaris - Càncer - Aspectes genèticsDiàtesiDISEASES::Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian EpithelialDISEASES::Neoplasms::Neoplasms by Site::Breast NeoplasmsPHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to DiseaseENFERMEDADES::neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovarioENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mamaFENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedadBRCA1/2; Càncer de mama; GenèticaBRCA1/2; Cáncer de mama; GenéticaBRCA1/2; Breast cancer; GeneticsPurpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)–negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25–1.33], P = 3×10−72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27–1.36], P = 7×10−50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25–1.40], P = 3×10−22) and BRCA2 (HR = 1.44 [95% CI 1.30–1.60], P = 4×10−12) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.Springer NatureInstitut Català de la Salut[Barnes DR, McGuffog L, Leslie G, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Rookus MA, Mooij TM] The Netherlands Cancer Institute, Department of Epidemiology (PSOE), Amsterdam, The Netherlands. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202120212020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11351/6487Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésGenetics in Medicine;22(10)https://doi.org/10.1038/s41436-020-0862-xAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/64872026-06-12T09:38:37Z
dc.title.none.fl_str_mv Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
title Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
spellingShingle Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Rookus, Matti A.
Mama - Càncer - Aspectes genètics
Ovaris - Càncer - Aspectes genètics
Diàtesi
DISEASES::Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
ENFERMEDADES::neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad
title_short Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
title_full Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
title_fullStr Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
title_full_unstemmed Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
title_sort Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
dc.creator.none.fl_str_mv Rookus, Matti A.
McGuffog, Lesley
Mooij, Thea M.
Balmaña Gelpí, Judith
Diez Gibert, Orland
Barnes, Daniel
Dennis, Joe
Leslie, Goska
author Rookus, Matti A.
author_facet Rookus, Matti A.
McGuffog, Lesley
Mooij, Thea M.
Balmaña Gelpí, Judith
Diez Gibert, Orland
Barnes, Daniel
Dennis, Joe
Leslie, Goska
author_role author
author2 McGuffog, Lesley
Mooij, Thea M.
Balmaña Gelpí, Judith
Diez Gibert, Orland
Barnes, Daniel
Dennis, Joe
Leslie, Goska
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Barnes DR, McGuffog L, Leslie G, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Rookus MA, Mooij TM] The Netherlands Cancer Institute, Department of Epidemiology (PSOE), Amsterdam, The Netherlands. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Mama - Càncer - Aspectes genètics
Ovaris - Càncer - Aspectes genètics
Diàtesi
DISEASES::Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
ENFERMEDADES::neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad
topic Mama - Càncer - Aspectes genètics
Ovaris - Càncer - Aspectes genètics
Diàtesi
DISEASES::Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
ENFERMEDADES::neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad
description BRCA1/2; Càncer de mama; Genètica
publishDate 2020
dc.date.none.fl_str_mv 2020
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/6487
url https://hdl.handle.net/11351/6487
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genetics in Medicine;22(10)
https://doi.org/10.1038/s41436-020-0862-x
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv Scientia
reponame:Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname:Departament de Salut de la Generalitat de Catalunya (DS)
instname_str Departament de Salut de la Generalitat de Catalunya (DS)
reponame_str Scientia. Dipòsit d'Informació Digital del Departament de Salut
collection Scientia. Dipòsit d'Informació Digital del Departament de Salut
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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