Associated Papers
Assessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer.
John J et al.
Cancer Genetics, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Prevalence of pathogenic germline variants in adult-type diffuse glioma.
McDonald MF et al.
Neuro-oncology Practice, 2023
Mismatch repair gene germline mutations in patients with prostate cancer.
Fang B et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz S et al.
Familial Cancer, 2023
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
Inherited Mutations in Chinese Men With Prostate Cancer.
Zhu Y et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2021
Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.
Hampel H et al.
Gynecologic Oncology, 2021
Prognostic Value of Germline DNA Repair Gene Mutations in De Novo Metastatic and Castration-Sensitive Prostate Cancer.
Wei Y et al.
The Oncologist, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
Farrington SM et al.
American Journal of Human Genetics, 1998