Associated Papers
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy.
Tang M et al.
Jcem Case Reports, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Germline DNA damage response gene mutations as predictive biomarkers of immune checkpoint inhibitor efficacy.
Dennis MJ et al.
Frontiers in Immunology, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
Bertucci F et al.
Genome Medicine, 2021
Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.
Hampel H et al.
Gynecologic Oncology, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 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
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel H et al.
Jama Oncology, 2018
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
Mork ME et al.
Familial Cancer, 2016
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N et al.
Journal of Medical Genetics, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Guerrini-Rousseau L et al.
Neuro-oncology Advances, 0