Pathogenic germline variants in the mismatch repair (MMR) genes(Lynch syndrome) are associated with an increased risk of prostate cancer.
This is a prospective observational study of 225 male MMR carriers who were recommended annual PSA screening.
Conclusions:
The results of this long-term prospective observational study indicate that the MMR genes and especially MSH2 and MSH6 are associated with a significantly increased incidence of PCa compared to men in corresponding age groups and birth cohorts without any known genetic predisposition, and with a high number of cancers showing aggressive characteristics. While we still do not know whether screening has led to an improved prognosis, we conclude that our findings support continued PSA screening of MSH2 and MSH6 carriers. Further studies are needed to provide optimal recommendations for PSA threshold and to clarify whether such screening is not indicated in MLH1 and PMS2carriers.
Lynch Syndrome Ireland 