Article Figures & Data
Figures
- Figure 1.
Position of pathogenic variants. The figure shows the position of pathogenic variants in (A) BRCA2, (B) CHEK2, (C) PALB2, and (D) CDH1.
Tables
- Table 1.
Association of known pathogenic variants with ILC and LCIS in women ≤60 years of age by gene (1,434 ILC, 368 LCIS cases, and 1,611 controls)
Gene Pathogenic variants in ILC cases Pathogenic variants in LCIS cases Pathogenic variants in controls OR (95% CI) for ILC P value for ILC OR (95% CI) for LCIS P value for LCIS P value case only (ILC vs. LCIS) BRCA2 27 1 2 15.44 (3.66–65.04) 1.7 × 10−7 2.19 (0.20–24.24) 0.46 0.030 CHEK2 19 11 5 4.31 (1.61–11.58) 1.7 × 10−3 9.90 (3.42–28.66) 1.4 × 10−5 0.037 PALB2 11 1 1 12.45 (1.60–95.52) 2.2 × 10−3 4.39 (0.27–70.30) 0.34 0.48 CDH1 5 1 0 — 0.02 — 0.18 1.00 BRCA1 1 0 0 — 0.5 — — — TP53 0 0 0 — — — — — Abbreviation: CI, confidence interval.
- Table 2.
Case-only analysis of pathogenic variants in ILC by age
Carriers ≤40 vs. >40 Carriers ≤50 vs. 51–60 Gene OR (95% CI) P OR (95% CI) P BRCA2 4.62 (1.74–12.23) 0.009 4.83 (1.95–12.01) 0.0003 CHEK2 0.00 (0.00–0.00) 0.62 0.78 (0.31–1.99) 0.65 PALB2 0.00 (0.00–0.00) 1 1.12 (0.34–3.68) 1 CDH1 13.14 (2.19–78.75) 0.022 2.02 (0.34–12.1) 0.66 BRCA1 — 0.05 — 0.43 TP53 — — — — - Table 3.
Case-only analysis of pathogenic variants in ILC for family history (FH) of breast cancer (BC)
Carriers FH of BC vs. no FH in first-degree relative Carriers FH of BC vs. no FH in any relative Gene OR (95% CI) P OR (95% CI) P BRCA2 2.36 (1.05–5.31) 0.043 2.25 (1.02–4.98) 0.046 CHEK2 2.59 (1.02–6.60) 0.067 3.95 (1.42–11.01) 0.008 PALB2 2.94 (0.83–10.45) 0.097 3.26 (0.84–12.65) 0.105 CDH1 2.95 (0.49–17.73) 0.238 2.11 (0.35–12.65) 0.415 BRCA1 0 1 — 0.419 TP53 — — — —
Supplementary Data
- Supplementary Table 5 - Supplementary Table 5 - details of variants and there frequency in 3 datasets and read coverage
- Supplementary Tables 1-10 and Figure 1 - Supplementary Table 1-Targeted Sequencing Panel Supplementary Table 2- Definition of variants. Supplementary Table 3 - Age of controls and cases by histological subtype. Supplementary Table 4 - Amplicons that failed to amplify consistently Supplementary Table 6 - BRCA2 mutations in cases Supplementary Table 7 - CHEK2 mutations in cases Supplementary Table 8 - PALB2 mutations in cases Supplementary Table 9 - CDH1 mutations in cases Supplementary Table 10 - Frequency of Variants of Unknown Significance and ILC in women =/< 60 years of age by gene Supplementary Figure 1: Example of Sanger sequencing confirming CHEK2 c.1100delC variant
July 2019
Volume 28, Issue 7
Volume 28, Issue 7
Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer
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