Associated Papers
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.
Bondavalli D et al.
Tumori, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L et al.
Journal of Medical Genetics, 2015
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Johannesma PC et al.
Clinical Genetics, 2011
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
Durno CA et al.
The American Journal of Gastroenterology, 2010
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
Gururangan S et al.
Neuro-oncology, 2008
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
Deschênes SM et al.
Cancer Letters, 2007
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
Ostergaard JR et al.
American Journal of Medical Genetics. Part A, 2005
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
De Vos M et al.
American Journal of Human Genetics, 2004
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
Menko FH et al.
Familial Cancer, 2004
Hereditary nonpolyposis colorectal cancer and related conditions.
Lucci-Cordisco E et al.
American Journal of Medical Genetics. Part A, 2003
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
De Rosa M et al.
Oncogene, 2000
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