Department of Human Biology, University of Haifa, Mount Carmel, Haifa, Israel
Eman Fares works in the Department of Human Biology, University of Haifa, Mount Carmel, Haifa, Israel. Fares successfully completed Administrative responsibilities. Fares is serving as an editorial member and reviewer of several international reputed journals. Fares has authored of many research articles/books related to Genetics.
Review Article
High Prevalence of Cancer among Carriers of a Truncated Mutation in Ataxia Telangiectasia Gene
Author(s): Eman Fares and Fuad Fares*
Ataxia Telangiectasia (AT) gene plays an important role in DNA damage response and involved in several cellular
signaling pathways. Here we report a high prevalence of cancer among a Druze family of ~1000 members affected
with AT living in the same village in North Israel. During the last four decades 16 AT patients were found
homozygotes carrying a truncated mutation at position 1339 (C>T) that eliminating the production of AT protein.
The high number of patients in this family is due to highly inbred with a large number of consanguineous marriages.
Therefore, the relatively high number of members of the family is carriers of this mutation. Moreover, in this family
more than 75 cancer patients were diagnosed. Thus, it is possible to postulate that carriers of truncated mutations
in AT gene are potentially at increased high risk for developing cancer. AT patien.. View more»