A large deletion of chromosome 5q22.1-22.2 associated with sparse type of familial adenomatous polyposis: report of a case.

Abstract:

:The proband was a 32-year-old man with sparse type of familial adenomatous polyposis with fundic gland and duodenal polyps and congenital hypertrophy of the retinal pigment epithelium without osteoma, dental abnormalities and desmoid tumors. Direct DNA sequencing did not detect germline mutations in any APC exon. However, using the multiplex ligation-dependent probe amplification method, we detected germline deletions of all APC exons. Using dual-color fluorescence in situ hybridization, we identified germline deletion of locus 5q22.1-22.2 that includes APC. Analysis of colorectal tumors identified somatic APC mutations in the cluster region in all polyps, but no loss of heterozygosity was detected in any polyp.

journal_name

Jpn J Clin Oncol

authors

Yamaguchi T,Koizumi K,Arai M,Tamura K,Iijima T,Horiguchi S,Miyaki M

doi

10.1093/jjco/hyu150

subject

Has Abstract

pub_date

2014-12-01 00:00:00

pages

1243-7

issue

12

eissn

0368-2811

issn

1465-3621

pii

hyu150

journal_volume

44

pub_type

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