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Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Abstract:

BACKGROUND and AIMS: We report a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenomatous polyps at age 23 and duodenal adenocarcinoma at age 25. He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis. METHODS: Germ-line screening for APC and MYH/MUTYH mutations was normal as was immunohistochemistry for MLH1 and MSH2 proteins. Investigation by array-comparative...

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Authors


Carvajal-Carmona, LG More by this author
Howarth, KM More by this author
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Journal:
Gastroenterology
Volume:
132
Issue:
2
Pages:
527-530
Publication date:
2007-02-05
DOI:
EISSN:
1528-0012
ISSN:
0016-5085
URN:
uuid:2118477c-914d-4078-be7a-447e506a1b6b
Source identifiers:
72059
Local pid:
pubs:72059

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