Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Genomic landscape of hereditary cancer syndromes in the largest cohort in Colombia: a retrospective study.
López Rivera JJ et al.
Lancet Regional Health. Americas, 2026
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
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
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
Molecular profiling of basal cell carcinomas in young patients.
Abi Karam M et al.
Bmc Medical Genomics, 2021
Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
Vos JR et al.
International Journal of Cancer, 2020
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.
Moreno-Ortiz JM et al.
Gastroenterology Research and Practice, 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
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
Skeldon SC et al.
European Urology, 2013
[Recognition of congenital endometrial carcinoma: the importance of family history and investigation of microsatellite instability in the tumour].
Hoogerbrugge N et al.
Nederlands Tijdschrift Voor Geneeskunde, 2007
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
Overbeek LI et al.
British Journal of Cancer, 2007
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A et al.
American Journal of Human Genetics, 2003