Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls

Cancer Genetics and Cytogenetics

Volumn 134, Issue 1, 2002, Pages 25-32

  Sommer, Steve S ^a   Buzin, Carolyn H ^a   Jung, Mira ^b   Zheng, Jian ^a   Liu, Qiang ^a   Jeong, Sook J ^b   Moulds, Jefferson ^b   Nguyen, Vu Q ^a   Feng, Jinong ^a   Bennett, William P ^a   Dritschilo, Anatoly ^b  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; GENOMIC DNA;

ADULT; AGED; ARTICLE; BREAST CARCINOGENESIS; BREAST CARCINOMA; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; ETHNOLOGY; FEMALE; GENETIC SUSCEPTIBILITY; HUMAN; INTRON; MISSENSE MUTATION; MUTATION RATE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL ANALYSIS;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 18344366334     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(01)00594-5     Document Type: Article

References (34)

1. Ataxia-telangiectasia
2. A single ataxia telangiectasia gene with a product similar to P1-3 kinase
3. Cancer risks in A-T heterozygotes
4. The incidence and gene frequency of ataxia-telangiectasia in the United States
5. Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia
6. Cancers in 44 families with ataxia-telangiectasia
7. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain
8. Breast and other cancers in families with ataxia-telangiectasia
9. Incidence of cancer in 161 families affected by ataxia-telangiectasia
10. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer
11. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: Haplotype study in French AT families
12. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: Expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer
13. Cancer risk and the ATM gene: A continuing debate
14. The ATM gene and breast cancer: Is it really a risk factor?
15. Heterozygous ATM mutations do not contribute to early onset of breast cancer
16. Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer
17. Prevalence of germline truncating mutations in ATM in women with a second breast cancer after radiation therapy for a contralateral tumor
18. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility
19. Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer
20. Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: Evidence that the scanning conditions are generic
21. Detection of virtually all mutations-SSCP (DOVAM-S): A rapid method for mutation scanning with virtually 100% sensitivity
22. Mutations associated with variant phenotypes in ataxia-telangiectasia
23. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group
24. Ataxia-telangiectasia locus: Sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene
25. RNA splice junctions of different classes of eukaryotes; Sequence statistics and functional implications in gene expression
26. Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations
27. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
28. An allelic variant at the ATM locus is implicated in breast cancer susceptibility
29. New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy
30. Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations
31. Missense mutations and evolutionary conservation of amino acids: Evidence that many of the amino acids in factor IX function as "spacer" elements
32. Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions
33. Loss of heterozygosity at 11q23.1 in breast carcinomas: Indication for involvement of a gene distal and close to ATM
34. Loss of heterozygosity of BRCA1, BRCA2 and ATM genes in sporadic invasive ductal breast carcinoma