title: Alterations of the double-strand break repair gene MRE11 in cancer.
abstract: MRE11 plays a role in DNA double-strand break repair. Hypomorphic mutations of MRE11 have been demonstrated in ataxia-telangiectasia (AT)-like disorder. ATM mutations play a causal role in AT and have been demonstrated in lymphoid malignancies in patients without AT histories. By analogy with the relationship of ATM to lymphoid malignancies, it is probable that alterations of MRE11 are associated with tumor formation. We performed a mutation analysis of MRE11 in 159 unselected primary tumors. Three missense mutations at conserved positions were found in breast and lymphoid tumors. Additionally, an aberrant transcript without genomic mutation was found in a breast tumor. These findings suggest an occasional role for MRE11 alterations in the development of primary tumors.
authors.affiliation: Department of Molecular Pathology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fukuda
authors.forename: T
authors.initials: T
authors.lastname: Sumiyoshi
authors.forename: M
authors.initials: M
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Kataoka
authors.forename: T
authors.initials: T
authors.lastname: Asahara
authors.forename: H
authors.initials: H
authors.lastname: Inui
authors.forename: M
authors.initials: M
authors.lastname: Watatani
authors.forename: M
authors.initials: M
authors.lastname: Yasutomi
authors.forename: N
authors.initials: N
authors.lastname: Kamada
authors.forename: K
authors.initials: K
authors.lastname: Miyagawa
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D004249:DNA Damage; D004260:DNA Repair / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D004706:Endodeoxyribonucleases; D005090:Exodeoxyribonucleases; D005656:Fungal Proteins / Q000235:genetics; D006801:Humans; D008223:Lymphoma / Q000235:genetics; D000076228:MRE11 Homologue Protein; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012334:RNA, Neoplasm / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D005656:Fungal Proteins; C121766:MRE11 protein, human; D012334:RNA, Neoplasm; D029701:Saccharomyces cerevisiae Proteins; D004706:Endodeoxyribonucleases; D005090:Exodeoxyribonucleases; D000076228:MRE11 Homologue Protein; C094191:MRE11 protein, S cerevisiae