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「"Couch FJ"[Author]」の検索結果

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Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes.

Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.

Non-BRCA familial breast cancer: review of reported pathology and molecular findings.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Evaluation and Adaptation of a Laboratory-Based cDNA Library Preparation Protocol for Retrospective Sequencing of Archived MicroRNAs from up to 35-Year-Old Clinical FFPE Specimens.

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer.

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Is hormone replacement therapy (HRT) following risk-reducing salpingo-oophorectomy (RRSO) in BRCA1 (B1)- and BRCA2 (B2)-mutation carriers associated with an increased risk of breast cancer?

Identification of a novel breast cancer molecular subgroup associated with a deficiency in DNA-damage response.

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

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