Associated Papers
Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.
Aldera AP et al.
Journal of Clinical Pathology, 2025
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
Genomic Medicine in the Developing World: Cancer Spectrum, Cumulative Risk and Survival Outcomes for Lynch Syndrome Variant Heterozygotes with Germline Pathogenic Variants in the MLH1 and MSH2 Genes.
Ndou L et al.
Biomedicines, 2024
Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the MLH1:c.1528C>T South African Founder Variant.
Ndou L et al.
Biomedicines, 2024
Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome.
Ndou L et al.
Journal of Personalized Medicine, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Case Report: Grade 2 Metastatic Pancreatic Neuroendocrine Tumor With Progression of One Metastasis After Pregnancy to Grade 3 Large-Cell Neuroendocrine Carcinoma: One Case Cured by Resection With Genomic Characterization of the Two Components.
Raoul JL et al.
Frontiers in Oncology, 2021
Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.
Liu Z et al.
Journal of Assisted Reproduction and Genetics, 2020
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
Bruwer Z et al.
Journal of Genetic Counseling, 2014
No evidence of genetic anticipation in a large family with Lynch syndrome.
Stupart D et al.
Familial Cancer, 2014
Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis.
Ryan S et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014
Risk of breast cancer in Lynch syndrome: a systematic review.
Win AK et al.
Breast Cancer Research : Bcr, 2013
Evidence for breast cancer as an integral part of Lynch syndrome.
Buerki N et al.
Genes, Chromosomes & Cancer, 2012
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
Perera S et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.
Blokhuis MM et al.
Familial Cancer, 2010
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
Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation.
Stupart DA et al.
Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland, 2009
Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation.
Stupart DA et al.
Familial Cancer, 2009
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.
Stulp RP et al.
Hereditary Cancer in Clinical Practice, 2008
The extracolonic cancer spectrum in females with the common 'South African' hMLH1 c.C1528T mutation.
Blokhuis MM et al.
Familial Cancer, 2008
GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation.
Felix R et al.
Mutation Research, 2006
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0