Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Hans F. A. Vasen, Zeinab Ghorbanoghli, Franck Bourdeaut, +16

Journal of Medical Genetics

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Melyssa Aronson, Chrystelle Colas, Andrew Y. Shuen, +11

Journal of Medical Genetics

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen, +105

Human Mutation

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Sahra Bodo, Chrystelle Colas, Olivier Buhard, +47

Gastroenterology

Primary ImmunodeficiencyMethylating AgentsGenetic TestingLymphocyte ToleranceAutoimmune Disease +8

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Carol Durno, Ayse B. Ercan, Vanessa Bianchi, +103

Journal of Clinical Oncology

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä, +112

EClinicalMedicine

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Claire Palles, Hannah D. West, Edward Chew, +66

The American Journal of Human Genetics

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure

Yael Goldberg, Naama Halpern, Ayala Hubert, +6

Cancer Genetics

MedicineGeneticsPathologyGynecologyColorectal Cancer +5

Complete remission, in BRCA2 mutation carrier with metastatic pancreatic adenocarcinoma, treated with cisplatin based therapy

Amir Sonnenblick, Luna Kadouri, Liat Appelbaum, +4

Cancer Biology & Therapy

Dna Cross-linking AgentTumor BiologyPancreatic CancerGastrointestinal OncologyMetastatic Pancreatic Adenocarcinoma +12

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

Idit Maya, Reuven Sharony, Shiri Yacobson, +9

Genetics in Medicine

Reproductive Genetic CounselingCounselingGenetic TestingGenotype-phenotype AssociationPsychiatry +6