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NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - June 2002

National Cancer Institute^®
Last Modified: June 1, 2002

Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome.
Familial colorectal cancer: pathology and molecular characteristics.
[Cost-effectiveness of screening in familial adenomatous polyposis]
Age-associated loss of heterozygosity of tumor suppressor genes in the gastric mucosa of humans.
[Complex estimation of proliferative activity of epithelial cells of the large intestine damaged by polyps and cancer]
Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

Table of Contents

1
UI - 11938427
AU - Al-Jaberi TM; El-Shanti H
TI - Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome.
SO - Saudi Med J 2002 Mar;23(3):328-31
AD - Department of General Surgery, Jordan University of Science and Technology, Irbid. emantaj@hotmail.com
OBJECTIVE: Juvenile polyposis syndrome is a rare autosomal dominant disorder with incomplete penetrance. The aim of this study was to review our experience with juvenile polyposis syndrome with emphasis on the diversity of polyp pathology and distribution and the recommended 10 family members were managed at Princess Basma Teaching Hospital, Irbid, Jordan. Two siblings with juvenile polyposis syndrome are discussed. RESULTS: The polyps were unusually concentrated in the rectum. In one patient the polyps were purely of the adenomatous type. The father suffered from non-polyposis colon cancer at the age of 35. CONCLUSION: Proctocolectomy and ileal pouch-anal anastomosis is recommended as the treatment of choice. Screening of juvenile polyposis syndrome patients and their relatives is emphasized for early detection of malignancy.

2
UI - 11905639
AU - Jass JR
TI - Familial colorectal cancer: pathology and molecular characteristics.
SO - Lancet Oncol 2000 Dec;1():220-6
AD - Department of Pathology, University of Queensland, Mayne Medical School, Herston, Australia. j.jass@mailbox.uq.edu.au
Appropriate management of familial colorectal cancer revolves around the diagnosis of the underlying genetic syndrome. This necessitates an interdisciplinary approach allowing integration of clinical, morphological, and molecular evidence that may involve several members of the same family. Genetic disorders express themselves over time, whereas clinical investigation of family members is likely to be episodic. Generic features of hereditary colorectal cancer syndromes include a positive family history, early age at onset, multiple neoplasms, and extracolonic lesions of either a developmental or neoplastic nature. Deriving a complete description of a genetic disorder is hampered by the need to trace and obtain tissue samples from many institutions. This review examines the usefulness of tissue-based investigations, both morphological and molecular, in raising the suspicion of familial colorectal cancer, providing a definitive tissue diagnosis and contributing to the larger body of diagnostic evidence. The account focuses on the two most well-studied syndromes--familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC)--but consideration is also given to less well-understood syndromes. Some of these, notably hyperplastic polyposis and mixed polyposis, may closely mimic FAP or HNPCC.

3
UI - 11987021
AU - Jungck M; Sauerbruch T
TI - [Cost-effectiveness of screening in familial adenomatous polyposis]
SO - Dtsch Med Wochenschr 2002 May 3;127(18):980-1

4
UI - 12016117
AU - Moragoda L; Jaszewski R; Kulkarni P; Majumdar AP
TI - Age-associated loss of heterozygosity of tumor suppressor genes in the gastric mucosa of humans.
SO - Am J Physiol Gastrointest Liver Physiol 2002 Jun;282(6):G932-6
AD - Department of Internal Medicine, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
The current study is based on the hypothesis that aging predisposes gastric mucosa to carcinogenesis through altered expression and/or mutations of genes involved in cell growth. To test this hypothesis, we investigated the age-associated changes in mutation of adenomatous polyposis coli (APC), deleted in colorectal cancer (DCC), p53, and K-ras genes in the gastric mucosa of 19 healthy subjects of varying ages (25-91 yr). Specifically, we studied the loss of heterozygosity (LOH) of these genes in cardia, body, and antrum of the stomach. We observed that 3 of 19 subjects (16%) over 60 yr of age show LOH of at least one of the tumor suppressor genes. Among the subjects over 60 yr of age, the incidence of LOH is 38% (3/8). Two of three subjects had mutations in more than one tumor suppressor gene. In all three affected subjects, mutation in APC, DCC, or p53 was located mainly in the body of the stomach, suggesting increased susceptibility of this region to neoplastic changes. However, no LOH of K-ras was observed in these subjects. Our observation that subjects over 60 yr of age show mutation in one or more of the tumor suppressor genes suggests an age-related increase in predisposition of the stomach to neoplasia.

5
UI - 11785433
AU - Nalieskina LA; Zabarko LB; Polishchuk LZ; Oliinichenko GP; Zakhartseva
TI - LM; Koshel' KV [Complex estimation of proliferative activity of epithelial cells of the large intestine damaged by polyps and cancer]
SO - Tsitol Genet 2001 May-Jun;35(3):50-5
Peculiarities of mitotic regime and expression of proliferating cell nuclear antigen were investigated in 18 polyps and 35 cases of colorectal cancer. Direct relationship between spectrum and degree of manifestation of proliferative activity, level of morphological malignant tumors and accumulation of oncopathology in the patient pedigrees was established.

6
UI - 12007223
AU - Gavert N; Yaron Y; Naiman T; Bercovich D; Rozen P; Shomrat R; Legum C;
TI - Orr-Urtreger A Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.
SO - Hum Mutat 2002 Jun;19(6):664
AD - Department of Surgery B, Tel Aviv Sourasky Medical Center, Israel.
Familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. This study included 71 Israeli families referred for molecular analysis of the APC gene. Analysis was performed by the protein truncation test (PTT) of exon 15, and if negative, by direct sequencing of exon 1 to 14. Mutations were found in 36 (50.7%) probands. Mutation detection rates depended on the pattern of referral, such that among the 40 probands referred from the Service for Hereditary Cancer the mutation detection rate was 70%, whereas among the 31 probands referred by other gastroenterologists detection rate was significantly lower (25.8%). Of the 36 mutations detected, 21 were within exon 15, 13 within exons 1 to 14 and 2 were newly-described splicing mutations in introns 9 and 14. A relatively high proportion of the mutations was detected in exon 9 (6/36), five of them newly described. Altogether, we describe here 17 new mutations. Within the two major ethnic groups in Israel, patients of Ashkenazi and non-Ashkenazi origin, there was no significant differences in the mutation detection rate or the distribution of mutations within the APC gene. No founder mutation was detected in any of these populations. Our data confirm that higher detection rates may be expected in patients referred by clinical services specializing in hereditary colon cancer. These results further underscore the importance of complete analysis of all exons and exon/intron boundaries, in order to achieve maximal detection rate in patients suspected of FAP. Copyright 2002 Wiley-Liss, Inc.

The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.

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