Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel

Naim Abu Freha, Yaara Leibovici Weissman, Alexander Fich, Inbal Barnes Kedar, Marisa Halpern, Ignacio Sztarkier, Doron M. Behar, Orly Arbib Sneh, Alex Vilkin, Hagit N. Baris, Rachel Gingold, Flavio Lejbkowicz, Yaron Niv, Yael Goldberg, Zohar Levi

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype.

Original languageEnglish
Pages (from-to)79-86
Number of pages8
JournalFamilial Cancer
Issue number1
StatePublished - 1 Jan 2018
Externally publishedYes


  • Bedouin
  • Colorectal cancer
  • Constitutional mismatch repair deficiency
  • Lynch syndrome
  • Mismatch repair protein


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