NDLI: The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history

Content Provider	PubMed Central
Author	Frayling, Ian M. Beck, Nicholas E. Ilyas, Md Dove-edwin, Isis Goodman, Peter Pack, Kevin Bell, Jennifer A. Williams, Christopher B. Hodgson, Shirley V. Thomas, Huw J. W. Talbot, Ian C. Bodmer, Walter F. Tomlinson, Ian P. M.
Copyright Year	1998
Abstract	Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5′ and 3′ regions of the APC gene. Attenuated adenomatous polyposis coli patients have “multiple” colorectal adenomas (typically fewer than 100) without the florid phenotype of classical FAP. Another group of patients with multiple adenomas has no mutations in the APC gene, and their phenotype probably results from variation at a locus, or loci, elsewhere in the genome. Recently, however, a missense variant of APC (I1307K) was described that confers an increased risk of colorectal tumors, including multiple adenomas, in Ashkenazim. We have studied a set of 164 patients with multiple colorectal adenomas and/or carcinoma and analyzed codons 1263–1377 (exon 15G) of the APC gene for germ-line variants. Three patients with the I1307K allele were detected, each of Ashkenazi descent. Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one of these individuals had an unusually large number of metaplastic polyps of the colorectum. There is increasing evidence that there exist germ-line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma, but without the florid phenotype of classical FAP, and possibly with importance for colorectal cancer risk in the general population.
Starting Page	10722
File Format	PDF
ISSN	10916490
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	18
Volume Number	95
Language	English
Publisher	The National Academy of Sciences
Publisher Date	1998-09-01
Access Restriction	Open
Rights Holder	The National Academy of Sciences
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects

Colorectal Tumors from APC*I1307K Carriers Principally Harbor Somatic APC Mutations outside the A8 Tract

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

Germline epimutations of APC are not associated with inherited colorectal polyposis

Phenotypic Characteristics Associated With the APC Gene I1307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps

APC mutations in colorectal tumors with mismatch repair deficiency.

The APC I1307K allele and BRCA-associated ovarian cancer risk.

Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history

Similar Documents

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects

Colorectal Tumors from APC*I1307K Carriers Principally Harbor Somatic APC Mutations outside the A8 Tract

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

Germline epimutations of APC are not associated with inherited colorectal polyposis

Phenotypic Characteristics Associated With the APC Gene I1307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps

APC mutations in colorectal tumors with mismatch repair deficiency.

The APC I1307K allele and BRCA-associated ovarian cancer risk.

Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history