Associated Papers
Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer.
Kato MK et al.
Cancer Science, 2024
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 › MSH2
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.
Kim H et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss and CDKN2A/B Homozygous Deletion on Recurrence-Free Survival.
Barresi V et al.
Cancers, 2021
33670055 (PubMed )
Supplement: cancers-13-00903-s001.xlsx › Foglio1
Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.
Álvarez K et al.
Journal of Clinical Medicine, 2020
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2019
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2013
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
De Lellis L et al.
Plos One, 2013
Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
Dymerska D et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Some aspects of molecular diagnostics in Lynch syndrome.
Kurzawski G
Hereditary Cancer in Clinical Practice, 2006
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G et al.
Clinical Genetics, 2006
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