NDLI: Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

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

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – Results of an international collaborative study

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

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

Chemotherapy resistant ovarian cancer in carriers of an hMSH2 mutation?

Desmoid tumour in familial adenomatous polyposis. A review of literature

Preventive measures in Peutz-Jeghers syndrome

Instructions for authors

Familial Cancer : Volume 1, Issue 1, March 2001

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

Content Provider	Springer Nature Link
Author	Rozen, Paul Samuel, Ziona Rabau, Micha Goldman, Gideon Shomrat, Ruth Legum, Cyril Orr Urtreger, Avi
Copyright Year	2001
Abstract	Familial adenomatous polyposis (FAP) is an uncommon, but widespread genetic disorder that develops multiple colonic adenomatous polyps and, if untreated, can lead to large bowel cancer. Little is known about its occurrence and characteristics in the Israeli population. Aims: To evaluate FAP prevalence, phenotypic manifestations and compliance for diagnosis and follow-up in our registry. Methods: Since 1993 approximately one-half of FAP patients in Israel have been seen and followed-up by us before and/or after colectomy. They and their families were encouraged to have mutation analysis, genetic and/or endoscopic screening. Results: 37 pedigrees were identified, including 2 non-Jewish. The Jewish ethnic distribution was similar to that of the general population and the point prevalence rate estimated as 28.4/one million Jewish inhabitants. There were 461 first-degree relatives at-risk for FAP. Genetic screening was completed and successful in 28 pedigrees (87.5%), and 73 FAP patients entered the registry. Marked intra-familial phenotypic variations with minimal disease manifestation were noted in 11 patients belonging to 4 pedigrees. Cancer occurred in 15.1% (11 patients), in 10 before FAP diagnosis or during follow-up elsewhere, but one non-compliant patient developed duodenal cancer. One other patient died from a massive, neglected, intra-abdominal desmoid. Compliance for evaluation and follow-up of pedigree members and individual FAP patients was inadequate in 29% and 27%, respectively. Conclusions: FAP occurs in the Israeli Jewish population at the expected rate, but is inadequately recognized in non-Jews. The inadequate compliance for screening and post-surgical follow-up needs to be addressed by educating the public, health care workers and Health Insurers.
Starting Page	75
Ending Page	82
Page Count	8
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	1
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2001-01-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Oncology Epidemiology Counselling
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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

An audit of familial juvenile polyposis at the Tel Aviv Medical Center: demographic, genetic and clinical features

Profuse familial adenomatous polyposis with an Adenomatous Polyposis Coli exon 3 mutation

Desmoid tumour in familial adenomatous polyposis. A review of literature

Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis

Rectal cancers in patients with familial adenomatous polyposis

Gonadal mosaicism and familial adenomatous polyposis

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

The history of familial adenomatous polyposis

Chemoprevention of familial adenomatous polyposis

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

Similar Documents

An audit of familial juvenile polyposis at the Tel Aviv Medical Center: demographic, genetic and clinical features

Profuse familial adenomatous polyposis with an Adenomatous Polyposis Coli exon 3 mutation

Desmoid tumour in familial adenomatous polyposis. A review of literature

Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis

Rectal cancers in patients with familial adenomatous polyposis

Gonadal mosaicism and familial adenomatous polyposis

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

The history of familial adenomatous polyposis

Chemoprevention of familial adenomatous polyposis

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features