Journal article

Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome

Rodrigo Santa Cruz Guindalini, Aung Ko Win, Cassandra Gulden, Noralane M Lindor, Polly A Newcomb, Robert W Haile, Victoria Raymond, Elena Stoffel, Michael Hall, Xavier Llor, Chinedu I Ukaegbu, Ilana Solomon, Jeffrey Weitzel, Matthew Kalady, Amie Blanco, Jonathan Terdiman, Gladis A Shuttlesworth, Patrick M Lynch, Heather Hampel, Henry T Lynch Show all

GASTROENTEROLOGY | W B SAUNDERS CO-ELSEVIER INC | Published : 2015

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 ..

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Grants

Awarded by National Institutes of Health/National Cancer Institute


Awarded by National Cancer Institute


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES


Funding Acknowledgements

This work was supported by two grants awarded to S.S.K. by the National Institutes of Health/National Cancer Institute: K08 CA142892 and UMI grant CA167551, and through cooperative agreements with members of the Colon Cancer Family Registry and Principal Investigators. Collaborating centers include University of Southern California Consortium, Mayo Clinic Cooperative Family Registry for Colon Cancer Studies, and Seattle Colorectal Cancer Family Registry. A.K.W. is an Australian National Health and Medical Research Council (NHMRC) Early Career Fellow. M.A.J. is NHMRC Senior Research Fellow. O.I.O. is an ACS Clinical Research Professor and is supported by grants from the Ralph and Marion Falk Medical Research Trust. This work was also supported by City of Hope Clinical Cancer Genetics Community Research Network and the Hereditary Cancer Research Registry, supported in part by Award Number RC4CA153828 (J.W.) from the National Cancer Institute and the Office of the Director, National Institutes of Health.