Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families-Reference-Cited by-同舟云学术

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Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families

Published:2015-05-04 Issue:1 Volume:7 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Lin Yiing,Lin Shin,Baxter Melanie D,Lin Lawrence,Kennedy Susan M,Zhang Zhengyan,Goodfellow Paul J,Chapman William C,Davidson Nicholas O

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13073-015-0148-0.pdf

Reference22 articles.

1. Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut. 2001;48:515–21.

2. Moisio A, Järvinen H, Peltomäki P. Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. Gut. 2002;50:845–50.

3. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RKS, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791–9.

4. Sieber OM, Tomlinson IP, Lamlum H. The adenomatous polyposis coli (APC) tumour suppressor–genetics, function and disease. Mol Med Today. 2000;6:462–9.

5. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005;128:1696–716.

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1. GASTRIC POLYPOSIS AND RISK OF GASTRIC CANCER IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS (FAP);Journal of Gastrointestinal Surgery;2024-08

2. Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease;The American Journal of Human Genetics;2024-07

3. Regional-specific calibration enables application of bioinformatic evidence for clinical classification of 5’ cis-regulatory variants in Mendelian disease;2023-12-24

4. The Progress of Colorectal Polyposis Syndrome in Chinese Population;Clinics in Colon and Rectal Surgery;2023-04-09

5. Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer;Journal of Medical Genetics;2021-12-14

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