Journal article

Childhood cancers in families with and without Lynch syndrome

John A Heath, Jeanette C Reece, Daniel D Buchanan, Graham Casey, Carol A Durno, Steven Gallinger, Robert W Haile, Polly A Newcomb, John D Potter, Stephen N Thibodeau, Loic Le Marchand, Noralane M Lindor, John L Hopper, Mark A Jenkins, Aung Ko Win



Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 proba..

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Awarded by National Cancer Institute, National Institutes of Health


Funding Acknowledgements

The authors thank all study participants of the Colon Cancer Family Registry and staff for their contributions to this project. This work was supported by Grant UM1 CA167551 from the National Cancer Institute, National Institutes of Health and through cooperative agreements with members of the Colon Cancer Family Registry and Principal Investigators. Collaborating centers include Australasian Colorectal Cancer Family Registry (U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01/U24 CA074800), Ontario Registry for Studies of Familial Colorectal Cancer (U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (U01/U24 CA074794), Stanford Consortium Colorectal Cancer Family Registry (U01/U24 CA074799), and University of Hawaii Colorectal Cancer Family Registry (U01/U24 CA074806). JAH is an Australian National Health and Medical Research Council (NHMRC) Career Development Fellow. MAJ is a NHMRC Senior Research Fellow. JLH is a NHMRC Senior Principal Research Fellow. AKW is an NHMRC Early Career Fellow. DDB is a University of Melbourne Research at Melbourne Accelerator Program (R@MAP) Senior Research Fellow.