NDLI: Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

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Familial Cancer : Volume 9, Issue 1, Supplement,April 2010

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Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

Content Provider	Springer Nature Link
Author	Jasperson, Kory W. Vu, Thuy M. Schwab, Angela L. Neklason, Deborah W. Rodriguez Bigas, Miguel A. Burt, Randall W. Weitzel, Jeffrey N.
Copyright Year	2009
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.
Starting Page	99
Ending Page	107
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	9
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2009-09-03
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Attenuated familial adenomatous polyposis Early onset colorectal cancer HNPCC Genetic testing Li-Fraumeni syndrome Lynch syndrome Mismatch repair genes Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Erratum to: Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

Erratum to: Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation

Lynch syndrome (HNPCC)

Overview of genetic markers for hereditary colorectal cancer

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies

The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome

DNA mismatch repair and Lynch syndrome

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

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Erratum to: Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis

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Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation

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