Familial colorectal cancer and familial adenomatous polyposis

1989 ◽  
Vol 3 (3) ◽  
pp. 593-613 ◽  
Author(s):  
John M.A. Northover ◽  
Victoria Murday
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Adenomatous Polyposis ◽  
Familial Colorectal Cancer

scholarly journals Translational Research in Familial Colorectal Cancer Syndromes

2018 ◽  
Vol 31 (03) ◽  
pp. 161-167
Author(s):  
Molly Ford
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Adenomatous Polyposis ◽  
Familial Colorectal Cancer ◽  
Inherited Cancer ◽  
Cancer Syndromes ◽  
Early Onset Colorectal Cancer ◽  
Made In

AbstractGrowing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer.

Hereditary Colorectal Cancer and Polyposis Syndromes

2021 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Juvenile Polyposis ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Peutz Jeghers Syndrome

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

What's New in Hereditary Colorectal Cancer?

2005 ◽  
Vol 129 (11) ◽  
pp. 1380-1384 ◽  
Author(s):  
Jeremy R. Jass
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Practical Significance ◽  
Adenomatous Polyposis ◽  
Repair Gene ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Dna Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Revised Bethesda Guidelines

Abstract Precancerous polyposes other than classic familial adenomatous polyposis and the condition hereditary nonpolyposis colorectal cancer, or Lynch syndrome, continue to present major diagnostic challenges for the anatomic pathologist. This editorial highlights the practical significance of novel insights and clinical guidelines in the recent literature, as well as in 4 contributions to this edition of the Archives of Pathology & Laboratory Medicine. The first section will address attenuated familial adenomatous polyposis and a newly recognized type of autosomal-recessive adenomatous polyposis associated with the DNA repair gene MYH. The remainder of the editorial discusses the role of the revised Bethesda guidelines in the diagnosis of hereditary nonpolyposis colorectal cancer and concludes with the recently identified serrated pathway syndrome.

Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis

2005 ◽  
Vol 164 (5) ◽  
pp. 306-310 ◽  
Author(s):  
Silvija Jerkic ◽  
Hendrik Rosewich ◽  
Jens-Gerd Scharf ◽  
Christina Perske ◽  
Laszlo F�zesi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Adenomatous Polyposis

scholarly journals Depressed-Type Colonic Lesions and “De Novo” Cancer in Familial Adenomatous Polyposis: A Colonoscopist’s Viewpoint

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Shin-ei Kudo ◽  
Yuusaku Sugihara ◽  
Hiroyuki Kida ◽  
Fumio Ishida ◽  
Hideyuki Miyachi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Early Stage ◽  
Colorectal Cancers ◽  
Adenomatous Polyposis ◽  
Depressed Type ◽  
Polyposis Syndrome ◽  
De Novo Cancer ◽  
Almost All

Familial adenomatous polyposis (FAP) is the most common inherited polyposis syndrome. Almost all patients with FAP will develop colorectal cancer if their FAP is not identified and treated at an early stage. Although there are many reports about polypoid lesions and colorectal cancers in FAP patients, little information is available concerning depressed lesions in FAP patients. Several reports suggested that depressed-type lesions are characteristic of FAP and important in the light of their rapid growth and high malignancy. Here, we describe the occurrence of depressed-type lesions in FAP patients treated at our institution. Between April 2001 and March 2010, eight of 18 FAP patients had colorectal cancers. Depressed-type colorectal cancer was found in three patients. It should be kept in mind that depressed-type lesions occur even in FAP.

Multiple Approach to the Exploration of Genotype-Phenotype Correlations in Familial Adenomatous Polyposis

2003 ◽  
Vol 21 (9) ◽  
pp. 1698-1707 ◽  
Author(s):  
L. Bertario ◽  
A. Russo ◽  
P. Sala ◽  
L. Varesco ◽  
M. Giarola ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Multiple Correspondence Analysis ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Mutation Site ◽  
Cancer Predisposition Syndrome ◽  
Increased Risk

Purpose: Familial adenomatous polyposis (FAP), caused by a mutation in the APC gene, is a colorectal cancer predisposition syndrome associated with several other clinical conditions. The severity of the FAP is related to the position of the inherited mutation in the APC gene. We analyzed a large series of FAP patients to identify associations among major clinical manifestations and to correlate the mutation site with specific disease manifestations. Materials and Methods: APC mutations were identified in 953 FAP patients from 187 families. We used unconditional logistic regression models and a method involving generalized estimating equations to investigate the association between genotype and phenotype. We used multiple correspondence analysis to represent the interrelationships of a multiway contingency table of the considered variables. Results: APC germline mutations were located between codons 156 and 2011 of the APC gene. Mutations spanning the region between codons 543 and 1309 were variable, but strongly associated with congenital hypertrophy of retinal pigment epithelium. Mutations between codons 1310 and 2011 were associated with a six-fold risk of desmoid tumors relative to the low-risk reference region (159 to 495). Mutations at codon 1309 were associated with early development of colorectal cancer. Mutations between codons 976 and 1067 were associated with a three- to four-fold increased risk of duodenal adenomas. The cumulative frequency of extracolonic manifestations was highest for mutations between codons 976 and 1067, followed by mutations between 1310 and 2011. Conclusion: Analysis of the relation between APC mutation site and phenotype identifies subgroups of FAP patients at high risk for major extracolonic disease, which is useful for surveillance and prevention.

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