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Familial Cancer : Volume 5

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Familial Cancer : Volume 2

Familial Cancer : Volume 1

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family

Content Provider	Springer Nature Link
Author	Puijenbroek, Marjo Nielsen, Maartje Reinards, Tjitske H. C. M. Weiss, Marjan M. Wagner, Anja Hendriks, Yvonne M. C. Vasen, Hans F. A. Tops, Carli M. J. Wijnen, Juul Wezel, Tom Hes, Frederik J. Morreau, Hans
Copyright Year	2006
Abstract	In the inherited syndromes, MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colorectal cancer (HNPCC), somatic mutations occur due to loss of the caretaker function that base-repair (BER) and mismatch repair (MMR) genes have, respectively. Recently, we identified a large branch from a MSH6 HNPCC family in which 19 family members are heterozygous or compound heterozygous for MUTYH germ line mutations. MSH6/MUTYH heterozygote mutation carriers display a predominant HNPCC molecular tumour phenotype, with microsatellite instability and under-representation of G>T transversions. A single unique patient is carrier of the MSH6 germline mutation and is compound heterozygote for MUTYH. Unexpectedly, this patient has an extremely mild clinical phenotype with sofar only few adenomas at age 56. Four out of five adenomas show characteristic G>T transversions in APC and/or KRAS2, as seen in MUTYH associated polyposis. No second hit of MSH6 is apparent in any of the adenomas, due to retained MSH6 nuclear expression and a lack of microsatellite instability. Although this concerns only one case, we argue that the chance to find an additional one is extremely small and currently a mouse model with this genotype combination is not available. Moreover, the patients brother who is also compound heterozygous for MUTYH but lacks the MSH6 germline mutation presented with a full blown polyposis coli. In conclusion, these data would support the notion that abrogation of both MSH6 DNA mismatch repair and base repair might be mutually exclusive in humans.
Starting Page	43
Ending Page	51
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	6
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2006-10-13
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Base excision repair Colorectal cancer HNPCC Mismatch repair MUTYH Urinary tract Epidemiology Human Genetics Oncology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family

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