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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskThe variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutationsComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingIdentification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients.Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation CarriersMolecular features of the basal-like breast cancer subtype based on BRCA1 mutation statusHaplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesCandidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersCommon variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorIdentification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation CarriersNovel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.Identification of four novel susceptibility loci for oestrogen receptor negative breast cancerBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian CancersLow prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.PI3K inhibition impairs BRCA1/2 expression and sensitizes BRCA-proficient triple-negative breast cancer to PARP inhibition.Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
P50
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P50
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հետազոտող
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Orland Diez
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Orland Diez
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Orland Diez
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Orland Diez
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Orland Diez
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Orland Diez
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Orland Diez
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Orland Diez
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P106
P31
P496
0000-0001-7339-0570