Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer
Nature Communications2014Vol. 5(1), pp. 4988–4988
Citations Over TimeTop 1% of 2014 papers
Colin C. Pritchard, Colm Morrissey, Akash Kumar, Xiaotun Zhang, Christina Smith, Ilsa M. Coleman, Stephen J. Salipante, Jennifer H. Milbank, Ming Yu, William M. Grady, Jonathan F. Tait, Eva Corey, Robert L. Vessella, Tom Walsh, Jay Shendure, Peter S. Nelson
Abstract
A hypermutated subtype of advanced prostate cancer was recently described, but prevalence and mechanisms have not been well-characterized. Here we find that 12% (7 of 60) of advanced prostate cancers are hypermutated, and that all hypermutated cancers have mismatch repair gene mutations and microsatellite instability (MSI). Mutations are frequently complex MSH2 or MSH6 structural rearrangements rather than MLH1 epigenetic silencing. Our findings identify parallels and differences in the mechanisms of hypermutation in prostate cancer compared with other MSI-associated cancers.
Related Papers
- → Mismatch repair genes in Lynch syndrome: a review(2009)78 cited
- → Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes(2005)19 cited
- → Testing microsatellite instability in solid tumors: the ideal versus what is real(2019)6 cited
- → Implication of expression of MMR proteins and clinicopathological characteristics in gastric cancer(2020)
- → Lynch Syndrome(2021)