Edith Olah
Katholieke Universiteit Leuven
Publications 123
#2Anders KvistH-Index: 25
view all 69 authors...
Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln...
#1Laura Fachal (University of Cambridge)H-Index: 20
#2Hugues Aschard (Harvard University)H-Index: 21
Last.Alison M. Dunning (University of Cambridge)H-Index: 81
view all 552 authors...
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched gen...
#1Hongyan Li (HCI: Huntsman Cancer Institute)
#2Mary Beth Terry (Columbia University)H-Index: 47
Last.David E. Goldgar (UofU: University of Utah)H-Index: 88
view all 54 authors...
Background:Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer (BC), but very few studies have examined these effects in BRCA1 and BRCA2 mutation carriers. Given the high BC risk for mutation carriers and the importance of BRCA1 and BRCA2 in DNA repair, better evidence on the associations of these lifestyle factors with BC risk is essential. Methods:Using a large international pooled cohort of BRCA1 ...
#1Gisella FiglioliH-Index: 7
#2Abctb Investigators (Autonomous University of Barcelona)H-Index: 3
Last.kConFab (UH: University of Helsinki)H-Index: 1
view all 278 authors...
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for...
1 CitationsSource
#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Xia Jiang (KI: Karolinska Institutet)H-Index: 12
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 333 authors...
#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Xia Jiang (KI: Karolinska Institutet)H-Index: 12
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 333 authors...
#1Xia Jiang (KI: Karolinska Institutet)H-Index: 6
#2Hilary K. Finucane (Broad Institute)H-Index: 29
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 333 authors...
Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic cor...
9 CitationsSource
#1D. Gareth EvansH-Index: 95
#2Vivek L. Patel (Brigham and Women's Hospital)
Last.Timothy R. Rebbeck (Harvard University)H-Index: 80
view all 261 authors...
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer (PCa). We evaluated whether PSVs in BRCA1/2 were associated with risk of overall PCa or high grade (Gleason 8+) PCa using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with PCa, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without PCa. PSVs in the 39 region of BRCA2 (c.7914+) were significantly associated with elevated risk of PCa compared w...
#1Haoyu Zhang (Johns Hopkins University)H-Index: 3
#2Haoyu Zhang (Johns Hopkins University)H-Index: 2
Last.Nilanjan Chatterjee (Johns Hopkins University)H-Index: 16
view all 276 authors...
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth fac...
2 CitationsSource
#1Xia JiangH-Index: 6
#2Xia JiangH-Index: 12
Last.Sara LindstroemH-Index: 46
view all 333 authors...
textabstractAn amendment to this paper has been published and can be accessed via a link at the top of the paper.