A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer

American Journal of Human Genetics

Volumn 71, Issue 2, 2002, Pages 432-438

  Vahteristo, Pia ^a   Bartkova, Jirina ^b   Eerola, Hannaleena ^a   Syrjäkoski, Kirsi ^c   Ojala, Salla ^a   Kilpivaara, Outi ^a   Tamminen, Anitta ^a   Kononen, Juha ^c   Aittomäki, Kristiina ^a   Heikkilä, Päivi ^a   Holli, Kaija ^d   Blomqvist, Carl ^a,f   Bartek, Jiri ^b   Kallioniemi, Olli P ^e   Nevanlinna, Heli ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

^d TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; CHECKPOINT KINASE 2; PROTEIN KINASE; PROTEIN P53; UNCLASSIFIED DRUG;

ARTICLE; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 18444379055     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341943     Document Type: Article

References (28)

1. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study
2. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
3. CHK2 kinase: A busy messenger
4. Chk2 tumour suppressor protein in human spermatogenesis and testicular germ-cell tumours
5. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
6. Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53
7. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
8. A systematic review of genetic polymorphisms and breast cancer risk
9. Familial breast cancer in southern Finland: How prevalent are breast cancer families and can we trust the family history reported by patients?
10. Risk of cancer in BRCA1 and BRCA2 mutation-positive and-negative breast cancer families (Finland)
11. Histological type-selective, tumor-predominant expression of a novel CHK1 isoform and infrequent in vivo somatic CHK2 mutation in small cell lung cancer
12. Mutation analysis of the DNA-damage checkpoint gene CHK2 in myelodysplastic syndromes and acute myeloid leukemias
13. The many substrates and functions of ATM
14. hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response
15. Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni syndrome
16. DNA damage-activated kinase Chk2 is independent of proliferation or differentiation yet correlates with tissue biology
17. Linkage of ATM to cell cycle regulation by the Chk2 protein kinase
18. Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro
19. Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors
20. The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites
21. Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients
22. Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing
23. Analysis of the CHK2 gene in lymphoid malignancies
24. A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families
25. p53, Chk2, and Chk1 genes in Finnish families with Li-Fraumeni syndrome: Further evidence of Chk2 in inherited cancer predisposition
26. Low proportion of BRCA1 and BRCA2 mutations in breast cancer families: Evidence for additional susceptibility genes
27. Characterization of tumor-associated Chk2 mutations
28. The DNA damage response: Putting checkpoints in perspective