title: Development of a mantle cell lymphoma in an ATM heterozygous woman after occupational exposure to ionising radiation and somatic mutation of the second allele.
abstract: Predisposition to lymphomagenesis is a well-known phenomenon of ataxia-telangiectasia, a recessive disorder caused by germline inactivation of ATM. ATM encodes a protein implicated in the repair of radiation induced double-strand breaks. Biallelic ATM inactivation was described also in sporadic lymphoid malignancies, supporting a role of ATM as a tumour suppressor gene. It is, however, still unclear whether ATM heterozygotes are at higher risk of tumours. We describe an ATM heterozygous patient, who developed a mantle cell lymphoma (MCL) after occupational exposure to ionising radiation and somatic mutation of the second ATM allele supporting the contention that heterozygous germline ATM alterations in combination with irradiation exposure predisposes to sporadic MCL.
authors.affiliation: Neuroscience Department, University of Padova, Via Giustiniani 5, I-35128 Padova, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Briani
authors.forename: Magdalena
authors.initials: M
authors.lastname: Schlotter
authors.forename: Peter
authors.initials: P
authors.lastname: Lichter
authors.forename: Claudia
authors.initials: C
authors.lastname: Kalla
mesh_terms: D000483:Alleles; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor / Q000528:radiation effects; D006579:Heterozygote; D006801:Humans; D020522:Lymphoma, Mantle-Cell / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000528:radiation effects*; D009381:Neoplasms, Radiation-Induced / Q000235:genetics*; D016273:Occupational Exposure; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011839:Radiation, Ionizing; D011871:Radiology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases