Genética hereditaria: investigación actual

Abstracto

High Prevalence of Cancer among Carriers of a Truncated Mutation in Ataxia Telangiectasia Gene

Eman Fares, 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 patients and heterozygous carriers of AT mutations are sensitive to radiation therapy. Therefore, treatment of cancer patients carrying mutated AT gene may avoid the use of radiation therapy and radiomimetic drugs. New medications act on ATM independent pathways should be discovered.