The First Molecular Screening of<i>MLH1</i>and<i>MSH2</i>Genes in Moroccan Colorectal Cancer Patients Shows a Relatively High Mutational Prevalence

Moufid, Fatima Zohra; Bouguenouch, Laila; Bouchikhi, Ihssane El; Chbani, Laïla; Houssaini, Mohamed Iraqui; Sekal, Mohammed; Belhassan, Khadija; Bennani, Bahia; Ouldim, Karim

doi:10.1089/gtmb.2018.0067

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…Indeed, we noted that the germline pathogenic variants in MMR genes detected in our LS families differ from that identified in Tunisian and Moroccan populations despite the fact that they share the same genetic background with Algerian population (Ben Sghaier et al., 2019; Moufid et al., 2018; Moussa et al., 2011). These findings could suggest a large genetic variation spectrum of MMR genes in North African populations.…”

Section: Discussionmentioning

confidence: 51%

“…To date, spectrum of mismatch repair gene variants is largely unknown in Algeria and in the other North African countries. Screening of MMR genes in small set of families with suspected LS have been reported in Tunisia, in Algeria (Eastern region) and Morocco, respectively (Ben Sghaier et al., 2019; Moufid et al., 2018; Moussa et al., 2011; Ziada‐Bouchaar et al., 2017).…”

Section: Introductionmentioning

confidence: 99%

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Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study

Boumehdi

Cherbal

Khider

et al. 2022

Annals of Human Genetics

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Colorectal cancer is the second leading cause of cancer-related deaths in women and men in Algeria. Lynch syndrome (LS) is an autosomal dominant disease caused by heterozygous germline pathogenic variants in mismatch repair genes (MMR) and frequently predisposes to colorectal cancer. However, data about MMR germline pathogenic variants in Algerian patients are limited. This first nationwide study aims to describe clinicopathologic features and germline variants in MMR genes in Algerian families with suspected LS. Sixty-four (64) families with suspected LS were studied. Index cases with LS who fulfilled Amsterdam criteria were screened by PCR-direct sequencing for germline variants in MMR genes: MLH1 (exons 1, 9, 10, 13, 16), MSH2 (exons 5, 6, 7, 12), MSH6 (exons 4 and 8) and PMS2 (exons 6 and 10). We selected these specific risk exons genes since they have a higher probability of harboring pathogenic variants. In addition, two unrelated LS patients were screened by next-generation sequencing using a cancer panel of 30 hereditary cancer genes. Six germline pathogenic variants and one germline likely pathogenic variant were identified in 19 (29.68%) families (4 MLH1, 2 MSH2 and 1 MSH6). Of index cases and relatives who underwent genetic testing (n = 76), 30 (39.47%) had MMR pathogenic gene variants, one (0.13%) had MMR gene likely pathogenic variant and three had MMR variant of uncertain significance, respectively. Two novel germline pathogenic variants in MLH1 (2) and one germline likely pathogenic variant in MSH6 (1) never published in individuals with LS have been detected in the present study. The recurrent MLH1 germline pathogenic variant c.1546C>T has been found in nine LS families, six of them related with two large kindreds, from four North central provinces of Algeria. In addition, the common MSH2 germline pathogenic variant c.942+3A>T has been detected in five unrelated patients with 328

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Section: Discussionmentioning

confidence: 51%

Section: Introductionmentioning

confidence: 99%

Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study

Boumehdi

Cherbal

Khider

et al. 2022

Annals of Human Genetics

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Genetic variants association with cancers in African-based populations: A systematic review

Okoturo

Opaleye

Ojikutu

et al. 2020

Cancer Epidemiology

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A Review of Cancer Genetics and Genomics Studies in Africa

Rotimi

Salhia

2021

Front. Oncol.

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Cancer is the second leading cause of death globally and is projected to overtake infectious disease as the leading cause of mortality in Africa within the next two decades. Cancer is a group of genomic diseases that presents with intra- and inter-population unique phenotypes, with Black populations having the burden of morbidity and mortality for most types. At large, the prevention and treatment of cancers have been propelled by the understanding of the genetic make-up of the disease of mostly non-African populations. By the same token, there is a wide knowledge gap in understanding the underlying genetic causes of, and genomic alterations associated with, cancer among black Africans. Accordingly, we performed a review of the literature to survey existing studies on cancer genetics/genomics and curated findings pertaining to publications across multiple cancer types conducted on African populations. We used PubMed MeSH terms to retrieve the relevant publications from 1990 to December 2019. The metadata of these publications were extracted using R text mining packages: RISmed and Pubmed.mineR. The data showed that only 0.329% of cancer publications globally were on Africa, and only 0.016% were on cancer genetics/genomics from Africa. Although the most prevalent cancers in Africa are cancers of the breast, cervix, uterus, and prostate, publications representing breast, colorectal, liver, and blood cancers were the most frequent in our review. The most frequently reported cancer genes were BRCA1, BRCA2, and TP53. Next, the genes reported in the reviewed publications’ abstracts were extracted and annotated into three gene ontology classes. Genes in the cellular component class were mostly associated with cell part and organelle part, while those in biological process and molecular function classes were mainly associated with cell process, biological regulation, and binding, and catalytic activity, respectively. Overall, this review highlights the paucity of research on cancer genomics on African populations, identified gaps, and discussed the need for concerted efforts to encourage more research on cancer genomics in Africa.

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The First Molecular Screening ofMLH1andMSH2Genes in Moroccan Colorectal Cancer Patients Shows a Relatively High Mutational Prevalence

Abstract: The present study reports a relatively high incidence of MLH1/MSH2 (1.87%). These results confirm the contribution of MMR genes to CRC susceptibility in our population and provide evidence regarding the requirement of implementing a national screening program for LS in Morocco.

Cited by 3 publications

References 27 publications

Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study

Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study

Genetic variants association with cancers in African-based populations: A systematic review

A Review of Cancer Genetics and Genomics Studies in Africa

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