Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in th

Abstract:

:Lynch syndrome is inherited in an autosomal dominant mode. Lynch syndrome is caused by impairment of one or more of the various genes (most frequently MLH1 and MSH2) involved in mismatch repair. In this study, whole genome comparative genomic hybridization array (array CGH) based genomic analysis was performed on twelve Saudi Lynch syndrome patients. A total of 124 chromosomal alterations (structural loss) were identified at mean log2 ratio cut off value of ±0.25. We also found structural loss in 2p21-p16.3, 3p23-p14.2, 7p22.1 and 1p34.1-p33 regions. These findings were subsequently validated by real time quantitative PCR showing downregulation of MSH2, MSH6, EPCAM, MLH1, PMS2 and MUTYH genes. These findings shall help in establishing database for alterations in mismatch repair genes underlying Lynch syndrome in Saudi population as well as to determine the incidence ratio of these disorders. Guided counselling will subsequently lead to the prevention and eradication of Lynch Syndrome in the local population.

journal_name

Saudi J Biol Sci

authors

Rasool M,Pushparaj PN,Mirza Z,Imran Naseer M,Abusamra H,Alquaiti M,Shaabad M,Sibiany AMS,Gauthaman K,Al-Qahtani MH,Karim S

doi

10.1016/j.sjbs.2019.06.012

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

157-162

issue

1

eissn

1319-562X

issn

2213-7106

pii

S1319-562X(19)30109-3

journal_volume

27

pub_type

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