Abstract
Evaluation of the causative role of germline mutations in DNA mismatch repair genes in hereditary nonpolyposis colorectal cancer (HNPCC) families can be difficult. Whereas nonsense, frameshift or splice-site mutations are presumed to lead to dysfunctional gene products and thus are generally considered to be causative, the evaluation of missense mutations often remains uncertain. We observed a novel germline mutation in the hMLH1 gene (His→Pro at codon 329) in an HNPCC family. The same missense mutation also occurred as a somatic event in the colonic tumours of two other HNPCC patients who had germline mutations at different sites of the hMLH1gene. Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 1 April 1997 / Accepted: 13 May 1997
Rights and permissions
About this article
Cite this article
Wang, Y., Friedl, W., Lamberti, C. et al. Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue. Hum Genet 100, 362–364 (1997). https://doi.org/10.1007/s004390050517
Issue Date:
DOI: https://doi.org/10.1007/s004390050517