-
Article
Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
-
Article
Open AccessFinal analysis of the phase 3 randomized clinical trial comparing HD201 vs. referent trastuzumab in patients with ERBB2-positive breast cancer treated in the neoadjuvant setting
The TROIKA trial established that HD201 and trastuzumab were equivalent in terms of primary endpoints (total pathological complete response) following neoadjuvant treatment. The objective of the present analys...
-
Article
Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtyp...
-
Article
Open AccessThe FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
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, whic...
-
Article
Open AccessGenome-wide association study of germline variants and breast cancer-specific mortality
We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.
-
Article
Open AccessGenome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility
Ewing sarcoma (EWS) is a pediatric cancer characterized by the EWSR1-FLI1 fusion. We performed a genome-wide association study of 733 EWS cases and 1346 unaffected individuals of European ancestry. Our study repl...
-
Article
Determinants of folate and vitamin B12 plasma levels in the French E3N-EPIC cohort
Impaired B vitamin status has been identified as a risk factor for major chronic diseases. This study aims at examining the determinants of plasma folate and vitamin B12 concentrations, considering lifestyle f...
-
Article
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants an...
-
Article
Association analysis identifies 65 new breast cancer risk loci
Association analysis identifies 65 new breast cancer risk loci, predicts target genes for known risk loci and demonstrates a strong overlap with somatic driver genes in breast tumours.
-
Article
Open AccessAssessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes
Genome-wide association studies (GWAS) have to date identified 94 genetic variants (single nucleotide polymorphisms (SNPs)) associated with risk of develo** breast cancer. A score based on the combined effec...
-
Article
A stemness-related ZEB1–MSRB3 axis governs cellular pliancy and breast cancer genome stability
During malignant transformation, the ability of mammary epithelial cells to cope with oncogene-induced DNA damage and avoid chromosomal instability is determined by stemness-related expression of the canonical...
-
Article
Open AccessA GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus
Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of ...
-
Article
Open AccessConstitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort
Human epidermal growth factor receptor 2-positive breast cancer is a subtype of interest regarding its outcome and the impressive impact of human epidermal growth factor receptor 2 targeted therapy. Constituti...
-
Article
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite
Olivier Delattre and colleagues show that a Ewing sarcoma susceptibility variant at 10q21.3 influences EGR2 expression by altering the activity of an enhancer bound by EWSR1-FLI1. They further show that EGR2 k...
-
Article
Open AccessAn original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be cause...
-
Article
Open AccessInfluence of multiple APOE genetic variants on cognitive function in a cohort of older men – results from the Normative Aging Study
APOE is the biomarker with the greatest known influence on cognitive function; however, the effect of complex haplotypes involving polymorphisms rs449647, rs405509, rs440446, rs429358 and rs7412 has never been s...
-
Article
Open AccessMitochondrial haplogroups modify the effect of black carbon on age-related cognitive impairment
Traffic-related air pollution has been linked with impaired cognition in older adults, possibly due to effects of oxidative stress on the brain. Mitochondria are the main source of cellular oxidation. Haplogro...
-
Article
Single-nucleotide polymorphisms of allergy-related genes and risk of adult glioma
Previous studies have shown an inverse association between allergies and glioma risk; however, results for associations between single nucleotide polymorphisms (SNPs) of allergy-related genes and glioma risk h...
-
Article
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma
Olivier Delattre and colleagues report a genome-wide association study of Ewing sarcoma. They identify common variants near TARDBP and EGR2 influencing susceptibility to this rare pediatric tumor.
-
Article
Open AccessGenetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)
Gonadotropin releasing hormone (GNRH1) triggers the release of follicle stimulating hormone and luteinizing hormone from the pituitary. Genetic variants in the gene encoding GNRH1 or its receptor may influence...
