Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

@article{Plaschke2004LowerIO,
  title={Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.},
  author={Jens Plaschke and Christoph Engel and Stefan Kr{\"u}ger and Elke Holinski‐Feder and Constanze Pagenstecher and Elisabeth Mangold and Gabriela Moeslein and Karsten Schulmann and Johannes F Gebert and Magnus von Knebel Doeberitz and Josef Rüschoff and Markus W. Loeffler and Hans Konrad Schackert},
  journal={Journal of clinical oncology : official journal of the American Society of Clinical Oncology},
  year={2004},
  volume={22 22},
  pages={
          4486-94
        }
}
  • J. Plaschke, C. Engel, +10 authors H. Schackert
  • Published 15 November 2004
  • Medicine
  • Journal of clinical oncology : official journal of the American Society of Clinical Oncology
PURPOSE The aim of the study was the analysis of the involvement and phenotypic manifestations of MSH6 germline mutations in families suspected of hereditary nonpolyposis colorectal cancer (HNPCC). PATIENTS AND METHODS Patients were preselected among 706 families by microsatellite instability, immunohistochemistry, and/or exclusion of MLH1 or MSH2 mutations and were subjected to MSH6 mutation analysis. Clinical and molecular data of MSH6 mutation families were compared with data from families… 
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Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC)
The family histories of 130 individuals with documented hereditary non-polyposis colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 (n = 62) or MSH6 (n…
MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease
TLDR
The findings suggest that germline MSH6 mutations contribute to a subset of early-onset colorectal cancer.
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
TLDR
Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations, and data provides additional information to add to the genotype-phenotype spectrum for both MSH 6 and PMs2 mutations.
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer
TLDR
It is demonstrated that preselection by microsatellite analysis substantially raises mutation detection rates in patients not meeting the strict Amsterdam criteria for HNPCC, and recommended to start with screening for large genomic deletions and to continue by screening for common mutations in exon 5 of MSH2 and exon 13 of MLH1 before searching for small mutations in the remaining exons.
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than Hereditary Non Polyposis Colorectal Cancer cohorts
TLDR
Genomic rearrangements do not contribute to a significant proportion of mutations in MSH6, but missense variants are relatively common and their pathogenicity can be uncertain.
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability
TLDR
The prevalence of a germline MSH6 mutation is very low in HNPCC suspected patients with non-MSI-high CRC, and microsatellite instability analysis in CRCs is highly sensitive to select patients for MSH 6 germline mutation analysis.
MSH 6 and PMS 2 mutation positive Australian Lynch syndrome families : novel mutations , cancer risk and age of diagnosis of colorectal cancer
TLDR
Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations, and this data provides additional information to add to the genotype-phenotype spectrum for both MSH 6 and PMs2 mutations.
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients
TLDR
The results do not support the association between MSH6 mutations and heterozygosity for MUTYH mutations, and it is suggested that MUTH mutations serve as phenotypical modifiers in HNPCC families.
Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer.
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor
TLDR
The data suggest considering biallelic mutations in MMR genes for patients who develop HNPCC-associated tumors at an unusually young age of onset, even without hematological or brain malignancies.
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TLDR
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TLDR
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TLDR
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TLDR
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