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 the Kingdom of Saudi Arabia

Joint Authors

Karim, Sajjad
Mirza, Zinat
Nusayr, Muhammad Umran
Pushparaj, Peter Natesan
Abu Samrah, Hibah
al-Quaiti, Maha
Shaabad, Manal
Sibiani, Abd al-Rahman Muhammad Said
Gauthaman, Kalamegam
al-Qahtani, Muhammad Husayn Muhammad
Rasul, Mahmud

Source

Saudi Journal of Biological Sciences

Issue

Vol. 27, Issue 1 (31 Jan. 2020), pp.157-162, 6 p.

Publisher

Saudi Biological Society

Publication Date

2020-01-31

Country of Publication

Saudi Arabia

No. of Pages

6

Main Subjects

Biology

Topics

Abstract EN

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.

American Psychological Association (APA)

Rasul, Mahmud& Pushparaj, Peter Natesan& Mirza, Zinat& Nusayr, Muhammad Umran& Abu Samrah, Hibah& al-Quaiti, Maha…[et al.]. 2020. 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 the Kingdom of Saudi Arabia. Saudi Journal of Biological Sciences،Vol. 27, no. 1, pp.157-162.
https://search.emarefa.net/detail/BIM-920493

Modern Language Association (MLA)

Rasul, Mahmud…[et al.]. 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 the Kingdom of Saudi Arabia. Saudi Journal of Biological Sciences Vol. 27, no. 1 (Jan. 2020), pp.157-162.
https://search.emarefa.net/detail/BIM-920493

American Medical Association (AMA)

Rasul, Mahmud& Pushparaj, Peter Natesan& Mirza, Zinat& Nusayr, Muhammad Umran& Abu Samrah, Hibah& al-Quaiti, Maha…[et al.]. 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 the Kingdom of Saudi Arabia. Saudi Journal of Biological Sciences. 2020. Vol. 27, no. 1, pp.157-162.
https://search.emarefa.net/detail/BIM-920493

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references : p. 162

Record ID

BIM-920493