CRC Risk in African American Families With Lynch Syndrome

open access


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.

Conclusions

In summary, we report results from the largest series of AA Lynch syndrome patients and families from the United States. We found a predominance of mutations in MLH1, with several recurrent and novel mutations. There is significantly elevated risk of CRC as well as other Lynch syndrome-associated tumors in this population. The overall paucity of AA families in referral centers is notable and requires additional study to understand factors that could impact Lynch Syndrome identification (or lack thereof) in this population. Inclusion of AAs (and other minorities) in studies of hereditary cancer syndromes is needed to better understand their contribution to overall cancer burden.