Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis |
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Authors: | Kory W Jasperson Thuy M Vu Angela L Schwab Deborah W Neklason Miguel A Rodriguez-Bigas Randall W Burt Jeffrey N Weitzel |
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Institution: | (1) Cancer Screening & Prevention Program, City of Hope Cancer Center, Duarte, CA, USA;(2) Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Room 4158, Salt Lake City, UT 84112, USA;(3) Department of Clinical Cancer Genetics, University of Texas MD Anderson Cancer Center, Houston, TX, USA |
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Abstract: | To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential
diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records
of 96 probands with CRC diagnosed prior to age 36 from three cancer centers. Determined the frequency of germline mutations
in probands meeting different clinical criteria used to identify Lynch syndrome. Three of 46 (6.5%) single case indicators
(probands without additional personal or family history suspicious for Lynch syndrome) were identified to carry a deleterious
or suspected deleterious mismatch repair (MMR) mutation compared with 10 of 19 (52.6%) in the cases meeting at least one additional
revised Bethesda guideline, and 11 of 15 (73.3%) in the cases meeting Amsterdam criteria. Two families without MMR mutations
were documented to have a germline APC or TP53 mutation after additional clinical features were identified. Our results suggest that single cases of CRC (those without
additional personal or family history suspicious of Lynch syndrome) diagnosed prior to age 36 infrequently have identifiable
MMR mutations, especially when compared to cases meeting additional criteria. Careful attention to evolving or additional
clinical features is warranted and may lead to an alternate genetic diagnosis in families with early onset CRC. |
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