Area of research
Genetics · Cancer Research
Research interest
Research interests include BRCA gene mutations in cancer, Chronic Lymphocytic Leukemia Research, Nutrition, Genetics, and Disease, and Cancer Genomics and Diagnostics.
Functional evaluation and clinical classification of BRCA2 variants
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Association of gene variant type and location with breast cancer risk in the general population
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
Germline pathogenic variants in cancer predisposition genes and overall survival of women with breast cancer.
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Non-CLL-type MBL and chip are associated precursor conditions: Insights from Mayo Clinic's MBL screening cohort
Analysis of <i>BRCA1</i> , <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast
Mosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL)
Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in<i>ATM</i>,<i>BRCA1</i>,<i>BRCA2</i>,<i>CHEK2</i>, and<i>PALB2</i>
ENIGMA <i>CHEK2</i> gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
A Population-Based Study of Genes Previously Implicated in Breast Cancer
Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women
Natural history of monoclonal B-cell lymphocytosis among relatives in CLL families
Abstract PD3-01: Population-based breast cancer risk estimates for predisposition gene mutations: Results from the CARRIERS study