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.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Inge M M LakemanMarjanka K Schmidt

Abstract

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. 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. 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...Continue Reading

References

Mar 22, 2008·American Journal of Human Genetics·Antonis C AntoniouUNKNOWN CIMBA
Aug 7, 2009·Human Molecular Genetics·Antonis C AntoniouUNKNOWN CIMBA
Oct 28, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Monika K GraeserRita K Schmutzler
Feb 24, 2011·JAMA : the Journal of the American Medical Association·Issa J Dahabreh, David M Kent
Apr 14, 2011·British Journal of Cancer·K MetcalfeS A Narod
Apr 19, 2011·International Journal of Methods in Psychiatric Research·Melissa J AzurPhilip J Leaf
Oct 31, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sarah SawyerPaul A James
Mar 29, 2013·Nature Genetics·Kyriaki MichailidouDouglas F Easton
May 1, 2013·Journal of the National Cancer Institute·Nasim MavaddatUNKNOWN EMBRACE
Sep 11, 2013·American Journal of Surgery·Ingrid M LizarragaCarol E H Scott-Conner
Apr 10, 2015·Journal of the National Cancer Institute·Nasim MavaddatMontserrat Garcia-Closas
Dec 25, 2015·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Alexandra J van den BroekMarjanka K Schmidt
Oct 5, 2016·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Christopher I AmosDouglas F Easton
Apr 5, 2017·Journal of the National Cancer Institute·Karoline B KuchenbaeckerAntonis C Antoniou
May 19, 2017·Journal of the National Cancer Institute·Mark E RobsonUNKNOWN WECARE Study Collaborative Group
Jun 21, 2017·JAMA : the Journal of the American Medical Association·Karoline B KuchenbaeckerHåkan Olsson
Sep 19, 2017·International Journal of Cancer. Journal International Du Cancer·Colin B BeggJorge S Reis-Filho
Oct 24, 2017·Nature·Kyriaki MichailidouDouglas F Easton
Feb 1, 2018·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Jenna LilyquistFergus J Couch
Mar 1, 2018·Journal of the National Cancer Institute·Mitchell H Gail, Ruth M Pfeiffer
Dec 18, 2018·American Journal of Human Genetics·Nasim MavaddatDouglas F Easton
Dec 24, 2018·The Breast : Official Journal of the European Society of Mastology·Delal AkdenizMaartje J Hooning
Jan 31, 2019·Journal of the National Cancer Institute·Iris KramerMarjanka K Schmidt
Dec 19, 2019·Breast Cancer Research : BCR·Daniele GiardielloMarjanka K Schmidt
Jul 16, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Daniel R BarnesUNKNOWN Consortium of Investigators of Modifiers of BRCA and BRCA2
Oct 7, 2020·American Journal of Human Genetics·Iris KramerMarjanka K Schmidt

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Related Papers

American Journal of Human Genetics
Iris KramerMarjanka K Schmidt
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Inge M M LakemanPeter Devilee
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Alexandra J van den BroekMarjanka K Schmidt
© 2021 Meta ULC. All rights reserved