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Gene Mapping and Molecular Analysis of Hereditarynon-polyposis Colorectal Cancer (Lynch Syndrome)using Systems Biological Approaches

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Journal Bioinformation
Specialty Biology
Date 2019 Jul 10
PMID 31285644
Citations 1
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Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) also known as Lynch Syndrome (LS), is a hereditary form of colorectal cancer (CRC). LSis caused by mutations in the mismatch repair (MMR) genes, mostly in MLH1, MSH2, MSH6 and PMS2. Identification of these gene mutations is essential to diagnose CRC, especially at a young age to increase the survival rate. Using open target platform, we have performed genetic association studies to analyze the different genes involved in the LS and to obtain target for disease evidence. We have also analyzed upstream regulators as target molecules in the data sets. We discovered that MLH1, MSH2, MSH6, PMS2, MLH3, EPCAM, TGFBR2, FBXO11 and PRSS58 were showing most association in LS. Our findings may further enhance the understanding of the hereditaryform of CRC.

Citing Articles

Research progress on the biological basis of Traditional Chinese Medicine syndromes of gastrointestinal cancers.

Guo T, Zhao S, Zhu W, Zhou H, Cheng H Heliyon. 2023; 9(11):e20653.

PMID: 38027682 PMC: 10643116. DOI: 10.1016/j.heliyon.2023.e20653.

References
1.
Aaltonen L, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P . Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998; 338(21):1481-7. DOI: 10.1056/NEJM199805213382101. View

2.
Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love D . Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. Genet Test. 2002; 5(4):281-90. DOI: 10.1089/109065701753617408. View

3.
Calistri D, Presciuttini S, Buonsanti G, Radice P, Gazzoli I, Pensotti V . Microsatellite instability in colorectal-cancer patients with suspected genetic predisposition. Int J Cancer. 2000; 89(1):87-91. DOI: 10.1002/(sici)1097-0215(20000120)89:1<87::aid-ijc14>3.0.co;2-9. View

4.
Carvalho-Silva D, Pierleoni A, Pignatelli M, Ong C, Fumis L, Karamanis N . Open Targets Platform: new developments and updates two years on. Nucleic Acids Res. 2018; 47(D1):D1056-D1065. PMC: 6324073. DOI: 10.1093/nar/gky1133. View

5.
Ichikawa Y, Lemon S, Wang S, Franklin B, Watson P, Knezetic J . Microsatellite instability and expression of MLH1 and MSH2 in normal and malignant endometrial and ovarian epithelium in hereditary nonpolyposis colorectal cancer family members. Cancer Genet Cytogenet. 1999; 112(1):2-8. DOI: 10.1016/s0165-4608(98)00252-0. View