ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis

Department of Preventive Medicine, Creighton University, Omaha, Nebraska, United States
Clinical Genetics (Impact Factor: 3.93). 02/2007; 71(1):91-2. DOI: 10.1111/j.1399-0004.2007.00734.x
Source: PubMed
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    ABSTRACT: Pseudoexhaustive test techniques based on partition and segmentation are described. These methods provide a higher fault coverage than standard automatic-test-program generation programs, and neither fault simulation nor fault modeling is required. Finding optimal partitions of combinational networks is an np-complete problem; an algorithm based on a heuristic approach that is faster and more reliable than the simplified algorithm of F. Hirose and V. Singh (1982) is developed. The adopted criteria assure a CPU executing time proportional to the number of input signals. Experimental results obtained from its application to professional circuits are presented
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    ABSTRACT: Juvenile polyposis (JP) is an autosomal-dominant syndrome characterised by the development of hamartomatous gastrointestinal polyps and is associated with colorectal cancer. However, the relative and absolute risk of colorectal malignancy in these patients is not known. The incidence rates of colorectal cancer in patients with JP were compared with that of the general population through person-year analysis with adjustment for demographics. In patients with JP, the RR (95% CI) of colorectal cancer was 34.0 (14.4 to 65.7). Similar risks were noted in both males (30.0, 9.6 to 68.6) and females (43.7, 8.8 to 125). The cumulative life-time risk for colorectal cancer was 38.7%. The mean (SD) age of diagnosis of colorectal cancer was 43.9 (10.4) years. Other gastrointestinal malignancies were not noted in this cohort. Patients with JP have a markedly increased RR and absolute risk for colorectal cancer and require vigilant colorectal surveillance starting at young age. A low threshold for recommending surgery with consideration for removal of the entire colorectum seems warranted.
    Full-text · Article · Aug 2007 · Gut
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    ABSTRACT: The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz-Jeghers syndrome and the PTEN hamartoma tumor syndrome. The frequency and location of the polyps vary considerably among syndromes, as does the affected patient's predisposition to the development of gastrointestinal and other malignancies. Although the syndromes are uncommon, it is important for the clinician to recognize these disorders because they are associated with considerable morbidity and mortality, not only from malignancy but also from nonmalignant manifestations such as bleeding, intussusception, and bowel obstruction. Each hamartomatous polyposis syndrome has its own distinctive organ-specific manifestations and each requires a different surveillance strategy, which makes accurate diagnosis crucial for appropriate patient management. The availability of clinical genetic testing for these disorders means that appropriate recognition allows for timely referral for cancer genetic counseling, and often allows for predicative testing in at-risk family members. Promisingly, an understanding of the molecular pathogenesis of these disorders offers insights into the mechanisms underlying the development of sporadic malignancy, and enables rational selection of targeted therapies that warrant further investigation.
    Full-text · Article · Oct 2007 · Nature Clinical Practice Gastroenterology &#38 Hepatology
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