Area of research
Genetics · Molecular Biology
Research interest
Research interests include BRCA gene mutations in cancer, Genetic factors in colorectal cancer, CRISPR and Genetic Engineering, and DNA Repair Mechanisms.
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
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
Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Marginal Contribution of Pathogenic RAD51D Germline Variants to Pakistani Early-Onset and Familial Breast/Ovarian Cancer Patients
Analysis of variants in untranslated and promoter regions and breast cancer risk using whole genome sequencing data
Association of the <scp> <i>CHEK2</i> </scp> c. <scp>1100delC</scp> variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2
Contribution of constitutional BRCA1 promoter methylation to early-onset and familial breast cancer patients from Pakistan
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Chasing the origin of 23 recurrent <scp><i>BRCA1</i></scp> mutations in Pakistani breast and ovarian cancer patients
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan
Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
Correction to: Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
Characterization of the Cancer Spectrum in Men With Germline<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variants
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients
Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome
Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer
Association between the BsmI Polymorphism in the Vitamin D Receptor Gene and Breast Cancer Risk: Results from a Pakistani Case-Control Study
Absence of the FANCM c.5101C>T mutation in BRCA1/2-negative triple-negative breast cancer patients from Pakistan
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan
<i><scp>BRCA1</scp></i> genetic testing in a Pakistani breast‐ovarian cancer family with multiple consanguineous marriages
Constitutional CHEK2mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan