Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.
Rosado-Jiménez L et al.
Advances in Laboratory Medicine, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.
Díaz-Velásquez CE et al.
Frontiers in Genetics, 2023
Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.
Singh S et al.
Biotechnology and Applied Biochemistry, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2022
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Bono M et al.
Esmo Open, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Bouvet D et al.
Gastroenterology, 2019
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Xavier A et al.
Molecular Genetics & Genomic Medicine, 2019
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J et al.
Genome Medicine, 2018
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
Ricker CN et al.
Cancer, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N et al.
Bmc Medical Genomics, 2017
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.
Cragun D et al.
Clinical Genetics, 2014
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
Rubio-Del-Campo A et al.
Bju International, 2008