OMIA 002160-9544 : Colorectal cancer, hereditary nonpolyposis, MSH6-related in Macaca mulatta

Possibly relevant human trait(s) and/or gene(s) (MIM number): 614350

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Cross-species summary: Lynch syndrome; HNPCC5

Molecular basis: Dray et al. (2018) reported a likely causal variant as a "missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene)". These authors did not actually provide any details on the variant.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MSH6 mutS homolog 6 Macaca mulatta 13 NC_041766.1 (60995316..60969418) MSH6 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Colorectal cancer, hereditary nonpolyposis, MSH6-related MSH6 missense Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" 2018 30108684

Reference


2018 Dray, B.K., Raveendran, M., Harris, R.A., Benavides, F., Gray, S.B., Perez, C.J., McArthur, M.J., Williams, L.E., Baze, W.B., Doddapaneni, H., Muzny, D.M., Abee, C.R., Rogers, J. :
Mismatch repair gene mutations lead to lynch syndrome colorectal cancer in rhesus macaques. Genes Cancer 9:142-152, 2018. Pubmed reference: 30108684. DOI: 10.18632/genesandcancer.170.

Edit History


  • Created by Frank Nicholas on 21 Sep 2018
  • Changed by Frank Nicholas on 21 Sep 2018