Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
High Rates of Germline Pathogenic Variants in Somali Patients with Ovarian Cancer.
Somohano-Short JV et al.
Gynecologic Oncology Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.
Ramberg I et al.
Investigative Ophthalmology & Visual Science, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Defined lifestyle and germline factors predispose Asian populations to gastric cancer.
Suzuki A et al.
Science Advances, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
Busch EL et al.
Oncotarget, 2017
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J et al.
Journal of Medical Genetics, 2016
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Hereditary diffuse gastric cancer.
Schrader K et al.
Cancer Treatment and Research, 2010
A short guide to hereditary diffuse gastric cancer.
Guilford P et al.
Hereditary Cancer in Clinical Practice, 2007
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P et al.
Jama, 2007
Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas.
Chanock SJ et al.
Breast Cancer Research : Bcr, 2007
Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer.
Jonsson BA et al.
International Journal of Cancer, 2002