Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations: The CHEK2-breast cancer consortium

Nature Genetics

Volumn 31, Issue 1, 2002, Pages 55-59

  Meijers Heijboer, Hanne ^a   Van den Ouweland, Ans ^a   Klijn, Jan ^a   Wasielewski, Marijke ^a   De Shoo, Anja ^a   Oldenburg, Rogier ^a   Hollestelle, Antoinette ^a   Houben, Mark ^a   Crepin, Ellen ^a   Van Veghel Plandsoen, Monique ^a   Elstrodt, Fons ^a   Van Duijn, Cornelia ^a   Barrels, Carina ^a   Meijerstte, Carel ^a   Schutte, Mieke ^a   McGuffog, Lesley ^b   Thompson, Deborah ^b   Easton, Douglas F ^b   Sodha, Nayanta ^c   Seal, Sheila ^c   Barfoot, Rita ^c   Mangion, Jon ^c   Chang Claude, Jenny ^d   Eccles, Diana ^e   Eeles, Rosalind ^c   Evans, D Gareth ^f   Houlston, Richard ^c   Murday, Victoria ^g   Narod, Steven ^h   Peretz, Tamara ⁱ   Peto, Julian ^c,j   Phelan, Catherine ^a   Zhang, Hong Xiang ^k   Szabo, Csilla ^l   Devilee, Peter ^m   Goldgar, David ^l   Futreal, P Andrew ⁿ   Nathanson, Katherine L ^k   Weber, Barbara L ^k   Rahman, Nazneen ^c   Stratton, Michael R ^c,n   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^d German Cancer Research Center   (United Kingdom)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f ST MARY S HOSPITAL   (United Kingdom)

^g ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^h WOMEN S COLLEGE HOSPITAL   (Canada)

ⁱ HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^j LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^k HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^l INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^m LEIDEN UNIVERSITY   (Netherlands)

ⁿ WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; ONCOGENE; PEDIGREE; PRIORITY JOURNAL;

BREAST NEOPLASMS; CASE-CONTROL STUDIES; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; RISK FACTORS; SEQUENCE DELETION;

EID: 18544389716     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng879     Document Type: Article

References (19)

1. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
2. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer
3. Chk2/hCdsl functions as a DNA damage checkpoint in G(1) by stabilizing p53
4. The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites
5. hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response
6. Characterization of tumor-associated Chk2 mutations
7. Linkage of ATM to cell cycle regulation by the Chk2 protein kinase
8. Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway
9. Threonine 68 phosphorylation by ataxia telangiectasia mutated is required for efficient activation of Chk2 in response to ionizing radiation
10. Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro
11. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
12. Screening hCHK2 for mutations
13. Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni syndrome
14. A systematic review of genetic polymorphisms and breast cancer risk
15. p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome
16. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
17. A robust method for detecting CHK21RAD53 mutations in genomic DNA
18. Programs for pedigree analysis, MENDEL, FISHER and dGENE
19. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population based study