Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

ABSTRACT:

Background & aims

African Americans (AAs) have the highest incidence of and mortality resulting from colorectal cancer (CRC) in the United States. Few data are available on genetic and nongenetic risk factors for CRC among AAs. Little is known about cancer risks and mutations in mismatch repair (MMR) genes in AAs with the most common inherited CRC condition, Lynch syndrome. We aimed to characterize phenotype, mutation spectrum, and risk of CRC in AAs with Lynch syndrome.

Methods

We performed a retrospective study of AAs with mutations in MMR genes (MLH1, MSH2, MSH6, and PMS2) using databases from 13 US referral centers. We analyzed data on personal and family histories of cancer. Modified segregation analysis conditioned on ascertainment criteria was used to estimate age- an

SUBMITTER: Guindalini RS 

PROVIDER: S-EPMC4648287 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature