Associated Papers
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I et al.
The Journal of Pathology, 2026
Variant-Specific Mendelian Risk Prediction Model.
Dias JA et al.
Statistics in Medicine, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.
O'Reilly RL et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes.
Smith MJ et al.
Journal of Medical Genetics, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients.
Kang MC et al.
Esmo Open, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Subramanian DN et al.
Npj Genomic Medicine, 2025
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.
Park JE et al.
Cancers, 2024
Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Culliford R et al.
Nature Communications, 2024
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Barili V et al.
Genes, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.
Keske A et al.
Breast Cancer Research and Treatment, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
Evans DG et al.
Genetics in Medicine Open, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.
Tsyganov MM et al.
Genes, 2023
Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.
Chian JS et al.
International Journal of Molecular Sciences, 2023
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
Variant-specific Mendelian Risk Prediction Model.
Bae E et al.
Biorxiv : the Preprint Server for Biology, 2023
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
Li N et al.
Journal of Medical Genetics, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.
Goebel EA et al.
Genes, 2022
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel W et al.
Cancers, 2022
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A et al.
The Journal of Pathology, 2022
Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
Tatineni S et al.
Cancer Medicine, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
Risk-reducing surgery in PALB2 mutations carriers with breast cancer: a case series and literature review.
Masanam MK et al.
Translational Breast Cancer Research : a Journal Focusing on Translational Research in Breast Cancer, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
Kwong A et al.
Cancers, 2021