dc.contributor.author | Lakeman, IMM | |
dc.contributor.author | van den Broek, AJ | |
dc.contributor.author | Vos, JAM | |
dc.contributor.author | Barnes, DR | |
dc.contributor.author | Adlard, J | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Arason, A | |
dc.contributor.author | Arnold, N | |
dc.contributor.author | Arun, BK | |
dc.contributor.author | Balmaña, J | |
dc.contributor.author | Barrowdale, D | |
dc.contributor.author | Benitez, J | |
dc.contributor.author | Borg, A | |
dc.contributor.author | Caldés, T | |
dc.contributor.author | Caligo, MA | |
dc.contributor.author | Chung, WK | |
dc.contributor.author | Claes, KBM | |
dc.contributor.author | GEMO Study Collaborators, | |
dc.contributor.author | EMBRACE Collaborators, | |
dc.contributor.author | Collée, JM | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Daly, MB | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Dhawan, M | |
dc.contributor.author | Domchek, SM | |
dc.contributor.author | Eeles, R | |
dc.contributor.author | Engel, C | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Feliubadaló, L | |
dc.contributor.author | Foretova, L | |
dc.contributor.author | Friedman, E | |
dc.contributor.author | Frost, D | |
dc.contributor.author | Ganz, PA | |
dc.contributor.author | Garber, J | |
dc.contributor.author | Gayther, SA | |
dc.contributor.author | Gerdes, A-M | |
dc.contributor.author | Godwin, AK | |
dc.contributor.author | Goldgar, DE | |
dc.contributor.author | Hahnen, E | |
dc.contributor.author | Hake, CR | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Hogervorst, FBL | |
dc.contributor.author | Hooning, MJ | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Hulick, PJ | |
dc.contributor.author | Imyanitov, EN | |
dc.contributor.author | OCGN Investigators, | |
dc.contributor.author | HEBON Investigators, | |
dc.contributor.author | KconFab Investigators, | |
dc.contributor.author | Isaacs, C | |
dc.contributor.author | Izatt, L | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | James, PA | |
dc.contributor.author | Janavicius, R | |
dc.contributor.author | Jensen, UB | |
dc.contributor.author | Jiao, Y | |
dc.contributor.author | John, EM | |
dc.contributor.author | Joseph, V | |
dc.contributor.author | Karlan, BY | |
dc.contributor.author | Kets, CM | |
dc.contributor.author | Konstantopoulou, I | |
dc.contributor.author | Kwong, A | |
dc.contributor.author | Legrand, C | |
dc.contributor.author | Leslie, G | |
dc.contributor.author | Lesueur, F | |
dc.contributor.author | Loud, JT | |
dc.contributor.author | Lubiński, J | |
dc.contributor.author | Manoukian, S | |
dc.contributor.author | McGuffog, L | |
dc.contributor.author | Miller, A | |
dc.contributor.author | Gomes, DM | |
dc.contributor.author | Montagna, M | |
dc.contributor.author | Mouret-Fourme, E | |
dc.contributor.author | Nathanson, KL | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Yie, JNY | |
dc.contributor.author | Olah, E | |
dc.contributor.author | Olopade, OI | |
dc.contributor.author | Park, SK | |
dc.contributor.author | Parsons, MT | |
dc.contributor.author | Peterlongo, P | |
dc.contributor.author | Piedmonte, M | |
dc.contributor.author | Radice, P | |
dc.contributor.author | Rantala, J | |
dc.contributor.author | Rennert, G | |
dc.contributor.author | Risch, HA | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Sharma, P | |
dc.contributor.author | Simard, J | |
dc.contributor.author | Singer, CF | |
dc.contributor.author | Stadler, Z | |
dc.contributor.author | Stoppa-Lyonnet, D | |
dc.contributor.author | Sutter, C | |
dc.contributor.author | Tan, YY | |
dc.contributor.author | Teixeira, MR | |
dc.contributor.author | Teo, SH | |
dc.contributor.author | Teulé, A | |
dc.contributor.author | Thomassen, M | |
dc.contributor.author | Thull, DL | |
dc.contributor.author | Tischkowitz, M | |
dc.contributor.author | Toland, AE | |
dc.contributor.author | Tung, N | |
dc.contributor.author | van Rensburg, EJ | |
dc.contributor.author | Vega, A | |
dc.contributor.author | Wappenschmidt, B | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | van Asperen, CJ | |
dc.contributor.author | Bernstein, JL | |
dc.contributor.author | Offit, K | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Rookus, MA | |
dc.contributor.author | Chenevix-Trench, G | |
dc.contributor.author | Antoniou, AC | |
dc.contributor.author | Robson, M | |
dc.contributor.author | Schmidt, MK | |
dc.date.accessioned | 2021-08-12T11:17:04Z | |
dc.date.available | 2021-08-12T11:17:04Z | |
dc.date.issued | 2021-06-10 | |
dc.identifier.citation | Genetics in medicine : official journal of the American College of Medical Genetics, 2021 | |
dc.identifier.issn | 1098-3600 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/4753 | |
dc.identifier.eissn | 1530-0366 | |
dc.identifier.doi | 10.1038/s41436-021-01198-7 | |
dc.description.abstract | PURPOSE: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. METHODS: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. RESULTS: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. CONCLUSION: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making. | |
dc.format | Print-Electronic | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | ELSEVIER SCIENCE INC | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | GEMO Study Collaborators | |
dc.subject | EMBRACE Collaborators | |
dc.subject | OCGN Investigators | |
dc.subject | HEBON Investigators | |
dc.subject | KconFab Investigators | |
dc.title | The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2021-04-26 | |
rioxxterms.version | VoR | |
rioxxterms.versionofrecord | 10.1038/s41436-021-01198-7 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2021-06-10 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Genetics in medicine : official journal of the American College of Medical Genetics | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics | |
pubs.publication-status | Published | |
pubs.embargo.terms | Not known | |
icr.researchteam | Oncogenetics | |
icr.researchteam | Oncogenetics | |
dc.contributor.icrauthor | Eeles, Rosalind | |