A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

ABSTRACT:

Background

Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America.

Methods

Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome.

Results

We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR var

SUBMITTER: Rossi BM 

PROVIDER: S-EPMC5586063 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature