Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families

Familial Cancer

Volumn 9, Issue 4, 2010, Pages 537-540

  Solyom, Szilvia ^a   Pylkäs, Katri ^a   Winqvist, Robert ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

BRIP1; CHK1; Hereditary predisposition to breast cancer; Known or candidate susceptibility genes; Mutation screening by MLPA analysis

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; CHECKPOINT KINASE 1;

ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CELL CYCLE; EXON; FAMILIAL CANCER; FINLAND; GENE DELETION; GENE REARRANGEMENT; GENETIC SCREENING; GENOMIC INSTABILITY; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL;

ADULT; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DNA-BINDING PROTEINS; FAMILY; FEMALE; FINLAND; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MASS SCREENING; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTEIN KINASES; RNA HELICASES;

EID: 78650197894     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-010-9360-7     Document Type: Article

References (38)

1. AnglianBreastCancerStudy Group 2000 Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases Br J Cancer 83 1301 1308 10.1054/bjoc.2000.1407
2. DF Easton KA Pooley AM Dunning, et al. 2007 Genome-wide association study identifies novel breast cancer susceptibility loci Nature 447 1087 1093 1:CAS:528:DC%2BD2sXmvFKmurc%3D 10.1038/nature05887 17529967 (Pubitemid 47014426)
3. N Rahman MR Stratton 1998 The genetics of breast cancer susceptibility Annu Rev Genet 32 95 121 1:CAS:528:DyaK1MXjvFWmtQ%3D%3D 10.1146/annurev.genet. 32.1.95 9928476 (Pubitemid 29045309)
4. MR Stratton N Rahman 2008 The emerging landscape of breast cancer susceptibility Nat Genet 40 17 22 1:CAS:528:DC%2BD1cXhtVyrsQ%3D%3D 10.1038/ng.2007.53 18163131
5. R Wooster BL Weber 2003 Breast and ovarian cancer N Engl J Med 348 2339 2347 1:CAS:528:DC%2BD3sXkt1Kktrc%3D 10.1056/NEJMra012284 12788999 (Pubitemid 36638109)
6. SB Cantor DW Bell S Ganesan, et al. 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function Cell 105 149 160 1:CAS:528:DC%2BD3MXivFOjtrg%3D 10.1016/S0092-8674(01) 00304-X 11301010 (Pubitemid 32323924)
7. S Cantor R Drapkin F Zhang, et al. 2004 The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically releVant inactivating mutations Proc Natl Acad Sci 101 2357 2362 1:CAS:528:DC%2BD2cXhvVOisLo%3D 10.1073/pnas.0308717101 14983014 (Pubitemid 38269316)
8. S Seal D Thompson A Renwick, et al. 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles Nat Genet 38 1239 1241 1:CAS:528:DC%2BD28XhtFeisbjJ 10.1038/ng1902 17033622 (Pubitemid 44646283)
9. M Levitus Q Waisfisz BC Godthelp, et al. 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J Nat Genet 37 934 935 1:CAS:528:DC%2BD2MXpsFWisb0%3D 10.1038/ng1625 16116423 (Pubitemid 43086148)
10. O Levran C Attwooll RT Henry, et al. 2005 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia Nat Genet 37 931 933 1:CAS:528: DC%2BD2MXpsFWisbw%3D 10.1038/ng1624 16116424 (Pubitemid 43086147)
11. R Litman M Peng Z Jin, et al. 2005 BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ Cancer Cell 8 255 265 1:CAS:528:DC%2BD2MXhtV2gt7vP 10.1016/j.ccr.2005.08.004 16153896 (Pubitemid 41317595)
12. SM Sy MS Huen J Chen 2009 PALB2 is an integral component of the BRCA complex required for homologous recombination repair Proc Natl Acad Sci 106 7155 7160 1:CAS:528:DC%2BD1MXlvVyiu7g%3D 10.1073/pnas.0811159106 19369211
13. F Zhang Q Fan K Ren, et al. 2009 PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2 Mol Cancer Res 7 1110 1118 1:CAS:528:DC%2BD1MXos1emtrc%3D 10.1158/1541-7786.MCR-09-0123 19584259
14. K Pylkäs H Erkko J Nikkilä, et al. 2008 Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families BMC Cancer 8 14 10.1186/1471-2407-8-146 (Pubitemid 351803800)
15. SM Karppinen J Vuosku K Heikkinen, et al. 2003 No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families Eur J Cancer 39 366 371 1:CAS:528:DC%2BD3sXotlCrsA%3D%3D 10.1016/S0959-8049(02)00498- 7 12565990 (Pubitemid 36140055)
16. P Vahteristo K Yliannala A Tamminen, et al. 2006 BACH1 Ser919Pro variant and breast cancer risk BMC Cancer 6 19 10.1186/1471-2407-6-19 16430786 (Pubitemid 43264310)
17. RI Yarden S Pardo-Reoyo M Sgagias, et al. 2002 BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage Nat Genet 30 285 289 10.1038/ng837 11836499
18. NS Ting WH Lee 2004 The DNA double-strand break response pathway: becoming more BRCAish than ever DNA Repair 3 935 944 1:CAS:528: DC%2BD2cXmtVeqtr0%3D 10.1016/j.dnarep.2004.03.026 15279779 (Pubitemid 38997935)
19. EM Bahassi JL Ovesen AL Riesenberg, et al. 2008 The checkpoint kinases Chk1 and Chk2 regulate the functional associations between hBRCA2 and Rad51 in response to DNA damage Oncogene 27 3977 3985 1:CAS:528:DC%2BD1cXns1Onsr0%3D 10.1038/onc.2008.17 18317453 (Pubitemid 351913634)
20. X Wang RD Kennedy K Ray, et al. 2007 Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway Mol Cell Biol 27 3098 3108 1:CAS:528:DC%2BD2sXkt1Ogtbw%3D 10.1128/MCB.02357-06 17296736 (Pubitemid 46581321)
21. G Zhi JB Wilson X Chen, et al. 2009 Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction Cancer Res 69 8775 8783 1:CAS:528:DC%2BD1MXhtl2rtr7L 10.1158/0008-5472.CAN-09-2312 19861535
22. JH Guervilly G Mace-Aime F Rosselli 2008 Loss of CHK1 function impedes DNA damage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia Hum Mol Genet 17 679 689 1:CAS:528:DC%2BD1cXitVenu7k%3D 10.1093/hmg/ddm340 18029388 (Pubitemid 351292257)
23. TH Stracker T Usui JH Petrini 2009 Taking the time to make important decisions: the checkpoint effector kinases Chk1 and Chk2 and the DNA damage response DNA Repair 8 1047 1054 1:CAS:528:DC%2BD1MXps1Wku7k%3D 10.1016/j.dnarep.2009.04.012 19473886
24. SJ Collis LJ Barber AJ Clark, et al. 2007 HCLK2 is essential for the mammalian S-phase checkpoint and impacts on Chk1 stability Nat Cell Biol 9 391 401 1:CAS:528:DC%2BD2sXjs1yqu7k%3D 10.1038/ncb1555 17384638 (Pubitemid 46511072)
25. A Efeyan M Serrano 2007 P53: guardian of the genome and policeman of the oncogenes Cell Cycle 6 1006 1010 1:CAS:528:DC%2BD2sXhtVSgu73K 17457049 (Pubitemid 46708570)
26. J Puc M Keniry HS Li, et al. 2005 Lack of PTEN sequesters CHK1 and initiates genetic instability Cancer Cell 7 193 204 1:CAS:528: DC%2BD2MXitFygu7c%3D 10.1016/j.ccr.2005.01.009 15710331 (Pubitemid 40248344)
27. CJ Kim JH Lee JW Song, et al. 2007 Chk1 frameshift mutation in sporadic and hereditary non-polyposis colorectal cancers with microsatellite instability Eur J Surg Oncol 33 580 585 1:STN:280:DC%2BD2szgtVWhsg%3D%3D 10.1016/j.ejso.2007.02.007 17408908 (Pubitemid 46746542)
28. F Bertoni AM Codegoni D Furlan, et al. 1999 CHK1 frameshift mutations in genetically unstable colorectal and endometrial cancers Genes Chromosomes Cancer 26 176 180 1:CAS:528:DyaK1MXmt1Whsb0%3D 10.1002/(SICI)1098-2264(199910)26: 2<176::AID-GCC11>3.0.CO;2-3 10469457 (Pubitemid 29416444)
29. A Menoyo H Alazzouzi E Espin, et al. 2001 Somatic mutations in the DNA damage-response genes ATR and CHK1 in sporadic stomach tumors with microsatellite instability Cancer Res 61 7727 7730 1:CAS:528: DC%2BD3MXotlaktbs%3D 11691784 (Pubitemid 33049356)
30. T Papp A Niemetz N Dosdahl, et al. 2007 Mutational analysis of Chk1, Chk2, Apaf1 and Rb1 in human malignant melanoma cell lines Oncol Rep 17 135 140 1:CAS:528:DC%2BD2sXhtFagtL0%3D 17143490
31. K Kumar Q Rahman H Schipper, et al. 2005 Mutational analysis of 9 different tumour-associated genes in human malignant mesothelioma cell lines Oncol Rep 14 743 750 1:CAS:528:DC%2BD2MXpvFGjsbw%3D 16077986
32. N Haruki H Saito Y Tatematsu, et al. 2000 Histological type-selective, tumor-predominant expression of a novel CHK1 isoform and infrequent in vivo somatic CHK2 mutation in small cell lung cancer Cancer Res 60 4689 4692 1:CAS:528:DC%2BD3cXmsFWiu7w%3D 10987268
33. A Marsh S Healey A Lewis, et al. 2007 Mutation analysis of five candidate genes in familial breast cancer Breast Cancer Res Treat 105 377 389 1:CAS:528:DC%2BD2sXhtFSlsrrM 10.1007/s10549-006-9461-z 17187232 (Pubitemid 47596450)
34. P Vahteristo A Tamminen P Karvinen, et al. 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition Cancer Res 61 5718 5722 1:CAS:528: DC%2BD3MXlvVCgtLw%3D 11479205 (Pubitemid 32769084)
35. M Allinen L Peri S Kujala, et al. 2002 Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation Genes Chromosomes Cancer 34 384 389 1:CAS:528:DC%2BD38XlslyrtLo%3D 10.1002/gcc.10079 12112527 (Pubitemid 34787459)
36. OA Hampton P Den Hollander CA Miller, et al. 2009 A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome Genome Res 19 167 177 1:CAS:528: DC%2BD1MXhvVSjurg%3D 10.1101/gr.080259.108 19056696
37. N Ameziane AM Van den Ouweland MA Adank, et al. 2009 Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer Breast Cancer Res Treat 118 651 653 10.1007/s10549-009-0428-8 19504183
38. T Walsh S Casadei KH Coats, et al. 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer JAMA 295 1379 1388 1:CAS:528:DC%2BD28Xislehurs%3D 10.1001/jama.295.12.1379 16551709