scholarly journals ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

2013 ◽  
Vol 16 (1) ◽  
pp. 101-116 ◽  
Author(s):  
Madhuri Hegde ◽  
◽  
Mathew Ferber ◽  
Rong Mao ◽  
Wade Samowitz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Adenomatous Polyposis ◽  
Technical Standards ◽  
Standards And Guidelines

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

scholarly journals Colonic Interposition in a Woman with Attenuated Familial Adenomatous Polyposis: Does the Location of the Colon Affect Polyp Formation?

2008 ◽  
Vol 22 (7) ◽  
pp. 634-636 ◽  
Author(s):  
Melanie D Beaton ◽  
Brian Taylor ◽  
David Driman ◽  
Peter Ainsworth ◽  
Paul C Adams
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Gastrointestinal Tract ◽  
Familial Adenomatous Polyposis ◽  
Colorectal Carcinoma ◽  
Esophageal Atresia ◽  
Adenomatous Polyposis ◽  
Lower Gastrointestinal Tract ◽  
Colonic Interposition ◽  
Attenuated Familial Adenomatous Polyposis

Attenuated familial adenomatous polyposis (AFAP) is a rare but well-established cause of colorectal carcinoma and multiple polyps. The present paper describes a case of a woman diagnosed with colorectal cancer at 34 years of age and subsequently found to have AFAP by genetic testing. During infancy, the patient underwent surgical correction of esophageal atresia with colonic interposition. While she had developed adenomatous polyps in her native cecum, there was no evidence of polyps or cancer in the segment of large intestine interposed between her upper esophagus and stomach. Therefore, various environmental differences between the upper and lower gastrointestinal tract may play a role in the expression of AFAP phenotype.

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