ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects

International Journal of Radiation Oncology Biology Physics

Volumn 52, Issue 3, 2002, Pages 606-613

  Iannuzzi, Christopher M ^a   Atencio, David P ^a   Green, Sheryl ^a   Stock, Richard G ^a   Rosenstein, Barry S ^a,b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ATM gene; Breast cancer; DHPLC; Radiation sensitivity

Indexed keywords

BLOOD; CORRELATION METHODS; DNA; DOSIMETRY; GENES; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MUTAGENESIS; RADIOTHERAPY; SURGERY; TISSUE; TUMORS;

BREAST CANCER;

ONCOLOGY;

ATM PROTEIN; DNA;

ADULT; AGED; ARTICLE; BREAST CARCINOMA; CANCER PATIENT; CANCER RADIOTHERAPY; CANCER STAGING; CLINICAL ARTICLE; CONTROLLED STUDY; DESQUAMATION; DNA ISOLATION; DNA SEQUENCE; EXON; FEMALE; FOLLOW UP; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LYMPHOCYTE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; RADIATION DOSE; RADIOSENSITIVITY; SCORING SYSTEM; SKIN MANIFESTATION; TISSUE NECROSIS;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CELL CYCLE PROTEINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA-BINDING PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; NEOPLASM STAGING; PROTEIN-SERINE-THREONINE KINASES; RADIATION TOLERANCE; RADIODERMATITIS; RETROSPECTIVE STUDIES; TUMOR SUPPRESSOR PROTEINS;

EID: 0036499132     PISSN: 03603016     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0360-3016(01)02684-0     Document Type: Article

References (44)

1. Contribution a l'independence de l'athetose double idiopathique et congenitale: Atteinte familiale, syndrome dystrophique, signe de reseau vasculaire conjonctival, integrite psychique
2. Ataxia-telangiectasia
3. Radiation reaction in ataxia-telangiectasia
4. The incidence and gene frequency of ataxia-telangiectasia in the United States
5. Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations
6. Response of dermal fibroblast cultures from patients with unusually severe responses to radiotherapy and from ataxia telangiectasia heterozygotes to fractional radiation
7. 0) T-lymphocyte lines, lymphoblastoid cell lines and fibroblasts from normal donors, from ataxia telangiectasia patients and from ataxia telangiectasia heterozygotes
8. Incidence of cancer in 161 families affected by ataxia-telangiectasia
9. Screening breast cancer patients for ATM mutations and polymorphisms using denaturing high performance liquid chromatography
10. Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms
11. Activation of the ATM kinase by ionizing radiation and phosphorylation of p53
12. Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin
13. Enhanced phosphorylation of p53 by ATM in response to DNA damage
14. Characterization of ATM expression, localization, and associated DNA-dependent protein kinase activity
15. Analysis of Rad3 and Chk1 protein kinases defines different checkpoint responses
16. Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro
17. Cancer risk and the ATM gene: A continuing debate
18. Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene
19. Enhanced radiation late effects and cellular radiation sensitivity in an ATM heterozygous breast cancer patient
20. Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy
21. Testing for mutations of the ataxia telangiectasia gene in radiosensitive breast cancer patients
22. Absence of ATM truncations in patients with severe acute radiation reactions
23. Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects
24. Radiosensitivity of normal tissues in ataxia-telangiectasia heterozygotes
25. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
26. Predominance of null mutations in ataxia-telangiectasia
27. Ataxia-telangiectasia: Identification and detection of founder-effect mutations in the ATM gene in ethnic populations
28. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
29. Identification of specific BRCA1 and BRCA2 variants by DHPLC
30. High-resolution liquid chromatography of oligonucleotides on nonporous alkylated styrene-divinylbenzene copolymers
31. Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated nonporous polystyrenedivinylbenzene particles
32. Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system
33. A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers
34. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
35. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
36. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
37. Toxicity criteria of the Radiation Therapy Oncology Group (RTOG) and the European Organization for Research and Treatment of Cancer (EORTC)
38. Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences
39. A preliminary report: Frequency of AT heterozygotes among prostate cancer patients with severe late responses to radiation therapy
40. Relationship of the ATM gene (mutated in ataxia-telangiectasia) to phosphatidylinositol 3-kinase
41. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
42. How neutral are synonymous codon mutations?
43. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome