Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Journal
NPJ breast cancer
ISSN: 2374-4677
Titre abrégé: NPJ Breast Cancer
Pays: United States
ID NLM: 101674891
Informations de publication
Date de publication:
09 Dec 2021
09 Dec 2021
Historique:
received:
13
06
2021
accepted:
03
11
2021
entrez:
10
12
2021
pubmed:
11
12
2021
medline:
11
12
2021
Statut:
epublish
Résumé
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make inference about breast cancer risk for women unselected for family history, an important consideration of population screening. We tested 1464 women diagnosed with breast cancer and 862 age-matched controls participating in the Australian Breast Cancer Family Study (ABCFS), and 6549 healthy, older Australian women enroled in the ASPirin in Reducing Events in the Elderly (ASPREE) study for rare germline variants using a 24-gene-panel. Odds ratios (ORs) were estimated using unconditional logistic regression adjusted for age and other potential confounders. We identified pathogenic variants in 11.1% of the ABCFS cases, 3.7% of the ABCFS controls and 2.2% of the ASPREE (control) participants. The estimated breast cancer OR [95% confidence interval] was 5.3 [2.1-16.2] for BRCA1, 4.0 [1.9-9.1] for BRCA2, 3.4 [1.4-8.4] for ATM and 4.3 [1.0-17.0] for PALB2. Our findings provide a population-based perspective to gene-panel testing for breast cancer predisposition and opportunities to improve predictors for identifying women who carry pathogenic variants in breast cancer predisposition genes.
Identifiants
pubmed: 34887416
doi: 10.1038/s41523-021-00360-3
pii: 10.1038/s41523-021-00360-3
pmc: PMC8660783
doi:
Types de publication
Journal Article
Langues
eng
Pagination
153Subventions
Organisme : U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)
ID : RO1CA159868
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : GNT1074383
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : GNT1155163
Organisme : NCI NIH HHS
ID : R01 CA159868
Pays : United States
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : GNT1101400
Organisme : EPA
ID : EP-D-15-016
Pays : United States
Organisme : National Breast Cancer Foundation (NBCF)
ID : NT-15-016
Organisme : NCI NIH HHS
ID : UM1 CA164920
Pays : United States
Informations de copyright
© 2021. The Author(s).
Références
Cancer Med. 2018 Apr;7(4):1349-1358
pubmed: 29522266
N Engl J Med. 2021 Feb 4;384(5):428-439
pubmed: 33471991
Cancer Epidemiol Biomarkers Prev. 2009 Jan;18(1):230-4
pubmed: 19124502
Radiother Oncol. 2007 Mar;82(3):349-53
pubmed: 17250914
Breast Cancer Res. 2011 Jan 18;13(1):R6
pubmed: 21244692
Genet Med. 2018 Dec;20(12):1677-1686
pubmed: 29988077
Biotechniques. 2019 Sep;67(3):118-122
pubmed: 31267764
J Natl Cancer Inst Monogr. 1999;(26):95-100
pubmed: 10854492
Breast Cancer Res. 2010;12(6):R109
pubmed: 21182766
NPJ Breast Cancer. 2017 Jun 9;3:22
pubmed: 28649662
J Natl Cancer Inst. 2015 Aug 27;107(11):
pubmed: 26315354
Gynecol Oncol. 2019 May;153(2):452-462
pubmed: 30733081
J Med Genet. 2016 Dec;53(12):800-811
pubmed: 27595995
Cancer. 2017 May 15;123(10):1721-1730
pubmed: 28085182
JAMA Oncol. 2019 Jan 1;5(1):51-57
pubmed: 30128536
Genet Med. 2015 Aug;17(8):630-8
pubmed: 25503501
Breast Cancer Res. 2011 Jul 25;13(4):R73
pubmed: 21787400
JAMA Oncol. 2015 Oct;1(7):943-51
pubmed: 26270727
J Clin Oncol. 2014 Jul 1;32(19):2001-9
pubmed: 24733792
J Natl Cancer Inst. 2018 Aug 1;110(8):855-862
pubmed: 30099541
J Med Genet. 2020 Jun;57(6):380-384
pubmed: 31784482
Breast Cancer Res Treat. 2012 Apr;132(2):439-48
pubmed: 21614566
Cancer Res. 2008 Apr 1;68(7):2154-7
pubmed: 18381420
J Clin Oncol. 2012 Dec 10;30(35):4308-16
pubmed: 23109706
Genet Med. 2020 Nov;22(11):1883-1886
pubmed: 32606442
J Med Genet. 2004 Oct;41(10):731-5
pubmed: 15466005
J Clin Oncol. 2016 May 1;34(13):1460-8
pubmed: 26976419
J Natl Cancer Inst. 2003 Mar 19;95(6):448-57
pubmed: 12644538
Trends Cancer. 2020 Apr;6(4):263-265
pubmed: 32209438
N Engl J Med. 2021 Feb 4;384(5):440-451
pubmed: 33471974
Int J Cancer. 2019 Apr 15;144(8):1962-1974
pubmed: 30303537
J Clin Oncol. 2007 Jan 1;25(1):64-9
pubmed: 17132695
Genet Med. 2020 Feb;22(2):407-415
pubmed: 31406321
Am J Hum Genet. 2018 Oct 4;103(4):522-534
pubmed: 30269813
Contemp Clin Trials. 2013 Nov;36(2):555-64
pubmed: 24113028
J Natl Cancer Inst. 2020 Dec 14;112(12):1275-1279
pubmed: 32119081
J Gerontol A Biol Sci Med Sci. 2017 Oct 12;72(11):1586-1593
pubmed: 28329340
Nucleic Acids Res. 2016 Jun 20;44(11):e108
pubmed: 27060149
J Clin Oncol. 2020 Mar 1;38(7):674-685
pubmed: 31841383
Fam Cancer. 2020 Jul;19(3):197-202
pubmed: 32060697
J Clin Oncol. 2019 May 20;37(15):1305-1315
pubmed: 30964716