NDLI: Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Please wait, while we are loading the content...

Hormone Replacement Therapy Appears to Be Safe After Prophylactic Adnexectomy in Premenopausal BRCA1/BRCA2 Mutation Carriers. Reaction to the 'Letter to readers' in Hereditary Cancer in Clinical Practice, 2005, 3 (2)

Patient Perspective on the Value of Genetic Counselling for Familial Pancreas Cancer

Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them?

Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal Cancer

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Content Provider	Springer Nature : BioMed Central
Author	Friedl, Waltraut Aretz, Stefan
Abstract	The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene APC. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of APC mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive MUTYH-associated polyposis (MAP) as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.
Related Links	https://hccpjournal.biomedcentral.com/counter/pdf/10.1186/1897-4287-3-3-95.pdf
Ending Page	20
Page Count	20
Starting Page	1
File Format	HTM / HTML
ISSN	18974287
DOI	10.1186/1897-4287-3-3-95
Journal	Hereditary Cancer in Clinical Practice
Issue Number	3
Volume Number	3
Language	English
Publisher	BioMed Central
Publisher Date	2005-09-15
Access Restriction	Open
Subject Keyword	Cancer Research Oncology Human Genetics familial adenomatous polyposis APC gene APC mutations genotype-phenotype correlations
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Oncology
Journal Impact Factor	2/2023
5-Year Journal Impact Factor	1.9/2023

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

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients (2005).

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary

Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

Adrenal tumours in patients with pathogenic APC mutations: a retrospective study

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Similar Documents

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients (2005).

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary

Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

Adrenal tumours in patients with pathogenic APC mutations: a retrospective study

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients