Associated Papers
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT et al.
American Journal of Human Genetics, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
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
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
Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
Kim SR et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
Ju HY et al.
Cancers, 2022
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
Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
Kim SR et al.
Cancer, 2020
Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.
Fountzilas E et al.
Oncotarget, 2018
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
Maccaroni E et al.
Oncotarget, 2015
Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.
Liu Y et al.
Plos One, 2014
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Walsh MD et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Guerrini-Rousseau L et al.
Neuro-oncology Advances, 0