Al-Shamsi et al. 2021 delineated the somatic mutational spectrum and frequency in Arab women with breast cancer. 78 women mostly with stage 3 or 4 breast cancer exhibited mutations and mutation rates in the following genes: TP53, 23.1%; ATM, 2.6%; IDH1, 2.6%; IDH2, 3.8%; PTEN, 7.7%; PIK3CA, 15.4%; APC, 7.7%; NPM1, 2.5%; MPL, 1.3%; JAK2, 2.5%; KIT, 7.7%; KRAS, 3.8%; and NRAS, 3.8%

Gilad et al. (1996) carried out a molecular study on 17 Jewish North African A-T families, coming from 12 widely separated locations in Morocco, and the cities of Tunis and Nabil in Tunisia. The parents in all of these families originated in North Africa, except for one Ashkenazi parent born in Poland, thus the total of 33 mutant ATM alleles in Jewish A-T families of North Africa were included in this study. RT-PCR followed by restriction endonuclease fingerprinting (REF) method was used to search for sequence alteration in the ATM transcript followed by genomic DNA sequencing for the region spanning the site which contains a sequence alteration detected by REF. Gilad et al. (1996) found a single mutation (103C-to-T) in the ATM gene, which results in a stop codon at position 35 of the ATM protein. Gilad et al. (1996) found that 32 out of 33 tested mutant ATM alleles harbor this mutation. Only one ATM allele had a different mutation, believing that this mutation probably appeared in the patient's father or in a previous generation of this family. They also found that all patients homozygous for the microsattellite markers across the A-T region were also homozygous for the 103C-to-T mutation. Gilad et al. (1996) found that patients from five non-Jewish A-T families of North Africa origin did not show this nonsense mutation, suggesting that this mutation might be unique to the Jewish community originating from that geographic area. Gilad et al. (1996) found this mutation in three out of 488 ATM alleles by targeting only this mutation as a rapid carrier detection assay. Dependent on the relatively large size of the haplotype common to most of the mutant alleles; approximately 3 Mb, Gilad et al. (1996) assumed that this mutation may be relatively recent. Based on the names of the affected families and the presence of the same ATM allele in two Tunisian Jewish families, Gilad et al. (1996) assumed that these families probably descended from a founder individual who lived in Spain, and because of the historical events, many family settled in Morocco and Tunisia. The wide geographic distribution of the affected families in Morocco also argues for the existence of this mutation for at least several hundred years. Gilad et al. (1996) concluded that the founder effect of the mutation reported in their study is the most significant one identified to date for A-T in a specific ethnic group.

Ziv et al. (1992) studied a number of A-T patients coming from large, highly inbred families that were diagnosed as having A-T of complementation group A. In one of these families, an additional autosomal recessive disease was identified, characterized by ataxia, hypotonia, microcephaly and bilateral congenital cataracts. In two patients with this syndrome, normal levels of serum immunoglobulins and alpha-fetoprotein, chromosomal stability in peripheral blood lymphocytes and skin fibroblasts, and normal cellular response to treatments with X-rays and the radiomimetic drug neocarzinostatin indicated that this disease does not share, with A-T, any additional features other than ataxia. These tests also showed that another patient in this family, who is also mentally retarded, is affected with both disorders. This conclusion was further supported by linkage analysis with 11q23 markers. Lod scores between A-T and these markers, cumulated over three large Arab families, were significant and confirmed the localization of the ATA gene to 11q23. However, another Druze family unassigned to a specific complementation group, showed several recombinants between A-T and the same markers, leaving the localization of the A-T gene in this family open. In 1995, Savitsky et al. studied affected members of the extended Palestinian-Arab AT family that had not been assigned to a complementation group (Ziv et al., 1992) and identified a homozygous deletion in the ATM gene that included almost the entire genomic region spanned by the original cDNA clone.

[See: Morocco > Gilad et al., 1996]

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified two Emirati patients with pathogenic variants in the ATM gene. An additional seven Emiratis were found to have variants of uncertain significance in the same gene.