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Associations between pathogenic variants in established breast cancer: Predisposition genes and risk of breast cancer according to estrogen-receptor and triple-negative breast cancer status of tumors*

Associations between pathogenic variants in established breast cancer: Predisposition genes and risk of breast cancer according to estrogen-receptor and triple-negative breast cancer status of tumors*
Breast cancer-predisposition gene ER-positive breast cancer
(n = 18,428)		 ER-negative breast cancer
(n = 3805)		 Triple-negative breast cancer
(n = 1463)
Participants with
pathogenic variant
(Number [%])		 Odds ratio
(95% CI)		 Participants with
pathogenic variant
(Number [%])		 Odds ratio
(95% CI)		 Participants with
pathogenic variant
(Number [%])		 Odds ratio
(95% CI)
ATM 151 (0.82) 1.96 (1.52-2.53) 19 (0.50) 1.04 (0.59-1.72) 5 (0.34) 0.50 (0.12-1.36)
BARD1 20 (0.11) 0.91 (0.49-1.64) 11 (0.29) 2.52 (1.18-5.00) 6 (0.41) 3.18 (1.16-7.42)
BRCA1 73 (0.40) 3.39 (2.17-5.45) 114 (3.00) 26.33 (17.28-41.52) 65 (4.44) 42.88 (26.56-71.25)
BRCA2 201 (1.09) 4.66 (3.52-6.23) 82 (2.16) 8.89 (6.36-12.47) 30 (2.05) 9.70 (5.97-15.47)
CDH1 13 (0.07) 3.37 (1.24-10.72) 3 (0.08) N/A 1 (0.07) N/A
CHEK2 205 (1.11) 2.60 (2.05-3.31) 20 (0.53) 1.40 (0.83-2.25) 8 (0.55) 1.63 (0.72-3.20)
NF1Δ 10 (0.05) 1.63 (0.65-4.03) 2 (0.05) N/A 1 (0.07) N/A
PALB2 64 (0.35) 3.13 (2.02-4.96) 42 (1.10) 9.22 (5.63-15.25) 24 (1.64) 13.03 (7.08-23.75)
PTEN 3 (0.02) N/A 0 N/A 0 N/A
RAD51C 16 (0.09) 0.83 (0.44-1.54) 9 (0.24) 2.19 (0.97-4.49) 4 (0.27) N/A
RAD51D 13 (0.07) 1.61 (0.71-3.70) 7 (0.18) 3.93 (1.40-10.29) 1 (0.07) N/A
TP53Δ 9 (0.05) N/A 2 (0.05) N/A 2 (0.14) N/A
ER: estrogen receptor; CI: confidence interval; ATM: ataxia-telangiectasia mutated; BARD1: BRCA1-associated RING domain 1; BRCA1: breast cancer susceptibility gene 1; BRCA2: breast cancer susceptibility gene 2; CDH1: cadherin 1; CHEK2: checkpoint kinase 2; NF1: neurofibromatosis type 1; PALB2: partner and localizer of BRCA2; PTEN: phosphatase and tensin homolog tumor suppressor gene; RAD51C: RAD51 paralog C; RAD51D: RAD51 paralog D; TP53: tumor protein p53; CARRIERS: Cancer Risk Estimates Related to Susceptibility Consortium; BWHS: Black Women's Health Study; CPSII: Cancer Prevention Study II; CPS3: Cancer Prevention Study-3; CTS: California Teachers' Study; MCBCS: Mayo Clinic Breast Cancer Study; MEC: Multiethnic Cohort Study; MMHS: Mayo Mammography Health Study; NHS: Nurses' Health Study; NHSII: Nurses' Health Study II; WCHS: Women's Circle of Health Study; WHI: Women's Health Initiative; WWHS: Wisconsin Women's Health Study.
* The studies in the CARRIERS consortium that were included in this population-based analysis were BWHS, CPSII, CPS3, CTS, MCBCS, MEC, MMHS, NHS, NHSII, WCHS, WHI, and WWHS.
¶ Odds ratio estimates for any breast cancer were adjusted for study, age, family history of breast cancer, and race or ethnic group.
Δ Pathogenic variants in NF1 and TP53 were restricted to those with an alternate allele fraction between 0.3 and 0.7.
From: Hu C, Hart SN, Gnanaolivu R, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med 2021; 384:440. Copyright © 2021 Massachusetts Medical Society. Reprinted with permission from Massachusetts Medical Society.
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