The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families

Familial Cancer

Volumn 4, Issue 2, 2005, Pages 183-186

  Sánchez De Abajo, Ana ^a   De La Hoya, Miguel ^a   Godino, Javier ^b   Furió, Vicente ^c   Tosar, Alicia ^a   Pérez Segura, Pedro ^a   Díaz Rubio, Eduardo ^a   Caldés, Trinidad ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^c Pathology Department

Author keywords

CHEK2; Genetic testing; HBCC; HNPCC

Indexed keywords

CHECKPOINT KINASE 2;

ALLELE; ARTICLE; BREAST CANCER; CANCER RISK; COLORECTAL CANCER; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; SPAIN;

ADULT; ALLELES; BREAST NEOPLASMS; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RISK FACTORS; SPAIN; VARIATION (GENETICS);

EID: 21244439203     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-004-5813-1     Document Type: Article

References (13)

1. Barteck J, Falck J, Lukas J. CHEK2 kinase: a busy messenger. Nat Rev Mol Cell Biol 2: 877-86.
2. H Meijers-Heijboer A Ouweland J Klijn 2002 Low-penetrance susceptibility to breast cancer due to CHEK2 1100delC in noncarriers of BRCA1 or BRCA2 mutations Nat Genet 31 55 9
3. P Vahteristo J Barkova H Eerola 2002 A CHEK2 genetic variant contributing to a substancial fraction of familial breast cancer Am J Hum Genet 71 432 8
4. A Osorio R Rodríguez-López O Díez 2003 The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population Int J Cancer 108 54 6
5. K Offit H Pierce T Kirchhoff 2003 Frequency of CHEK2 1100delC in New York breast cancer cases and controls BMC Med Genet 4 1
6. H Meijers-Heijboer J Wijnen H Vasen 2003 The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype Am J Hum Genet 72 1308 14
7. O Kilpivaara P Laiho LA Aaltonen H. Nevalinna 2003 CHEK2 1100delC and colorectal cancer J Med Genet 40 e110
8. T Caldes J Godino M de la Hoya 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain Int J Cancer 98 5 774 9
9. M Dela Hoya P Perez-Segura N Van Orsouw 2001 Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene Int J Cancer 91 1 137 40
10. SA Miller DD Dykes HF Polesky 1988 A simple salting out procedure for extracting DNA from human nucleated cells Nuclei Acids Res 16 1215
11. DW Bell JM Varley TE Szydlo 1999 Heterozygous germline hCHK2 mutations in Li-Fraumeni syndrome Science 286 2528 31
12. RA Oldenburg K Kroeze-Jansema J Kraan 2003 The CHEK2 1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families Cancer Res 63 8153 7
13. L Lipton HJW Thomas RA Eeles 2001 Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene? Fam Cancer 1 189 95