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Genome-wide association studies identify four ER negative-specific breast cancer risk lociPALB2, CHEK2 and ATM rare variants and cancer risk: data from COGSLarge-scale genotyping identifies 41 new loci associated with breast cancer risk.Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Gene expression profiling of formalin-fixed, paraffin-embedded familial breast tumours using the whole genome-DASL assay.DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status.Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers.Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancerThe application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genesGenetic variation in mitotic regulatory pathway genes is associated with breast tumor gradeCommon non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association ConsortiumHigh grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityMicroRNA related polymorphisms and breast cancer risk.BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50.Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer.Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors.Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer riskInherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancerSplicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapyAdequacy of risk-reducing gynaecologic surgery in BRCA1 or BRCA2 mutation carriers and other women at high risk of pelvic serous cancer.Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected familiesFine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk.Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients.
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P50
description
study group
@en
研究小組
@zh
name
kConFab Investigators
@en
type
label
kConFab Investigators
@en
prefLabel
kConFab Investigators
@en