A novel MSH2 germline mutation in a Druze HNPCC family

Zidan, Jamal; Niessen, Renée C.; Laitman, Yael; Rozeveld, Dennie; Hofstra, Robert; Friedman, Eitan

doi:10.1007/s10689-007-9157-5

Cited by 4 publications

(2 citation statements)

References 31 publications

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“…The c.705delA mutation in the MSH2 gene was previously reported in several families from a Druze village . We detected this mutation in another Druze family from the same village.…”

Section: Resultssupporting

confidence: 64%

Genetic features of Lynch syndrome in the Israeli population

et al. 2014

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Diagnosis of Lynch syndrome (LS) may be complex. Knowledge of mutation spectrum and founder mutations in specific populations facilitates the diagnostic process. Aim of the study is to describe genetic features of LS in the Israeli population and report novel and founder mutations. Patients were studied at high-risk clinics. Diagnostics followed a multi-step process, including tumor testing, gene analysis and testing for founder mutations. LS was defined by positive mutation testing. We diagnosed LS in 242 subjects from 113 families coming from different ethnicities. We identified 54 different mutations; 13 of them are novel. Sixty-seven (59%) families had mutations in MSH2, 20 (18%) in MSH6, 19 (17%) in MLH1 and 7 (6%) in PMS2; 27% of the MSH2 mutations were large deletions. Seven founder mutations were detected in 61/113 (54%) families. Constitutional mismatch repair deficiency (CMMR-D) was identified in five families. Gene distribution in the Israeli population is unique, with relatively high incidence of mutations in MSH2 and MSH6. The mutation spectrum is wide; however, 54% of cases are caused by one of seven founder mutations. CMMR-D occurs in the context of founder mutations and consanguinity. These features should guide the diagnostic process, risk estimation, and genetic counseling.

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“…The c.705delA mutation in the MSH2 gene was previously reported in several families from a Druze village . We detected this mutation in another Druze family from the same village.…”

Section: Resultssupporting

confidence: 64%

Genetic features of Lynch syndrome in the Israeli population

et al. 2014

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“…To the best of our knowledge the only LS causing mutation among Druze LS families has been a deletion in exon 4 at position 705 causing an early stop codon in MSH2 gene; c.705del (p.Asp236fs) which was originally described by Zidan and Friedman in 2008 21 . Taken together the fact that the Druze are a unique genetic population who share similar environments (i.e., geographical, household, dietary) makes them an ideal population to study phenotypic diversity.…”

mentioning

confidence: 99%

Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel

Naddaf,

Carasso,

Reznick-Levi

et al. 2023

Sci Rep

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Lynch syndrome (LS) is a hereditary cancer syndrome caused by autosomal dominant mutations, with high probability of early onset for several cancers, mainly colorectal cancer (CRC). The gut microbiome was shown to be influenced by host genetics and to be altered during cancer development. Therefore, we aimed to determine alterations in gut microbiome compositions of LS patients with and without cancer. We performed fecal microbiome analyses on samples of LS and non-LS members from the Druze ethnoreligious community in Israel, based on both their LS mutation and their cancer history. Our analysis revealed specific bacterial operational taxonomic units (OTUs) overrepresented in LS individuals as well as bacterial OTUs differentiating between the LS individuals with a history of cancer. The identified OTUs align with previous studies either correlating them to pro-inflammatory functions, which can predispose to cancer, or to the cancer itself, and as such, these bacteria can be considered as future therapeutic targets.

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