Germline alterations in the 53BP1 gene in breast and ovarian cancer families

Cancer Letters

Volumn 245, Issue 1-2, 2007, Pages 337-340

  Rapakko, Katrin ^a   Heikkinen, Katri ^a   Karppinen, Sanna Maria ^a   Erkko, Hannele ^a   Winqvist, Robert ^a  

^a OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

53BP1; Breast cancer susceptibility; Double strand DNA repair

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; DOUBLE STRANDED DNA; PROTEIN; PROTEIN 53BP1; PROTEIN P53;

53BP1 GENE; ADULT; APOPTOSIS; ARTICLE; BREAST CANCER; CANCER FAMILY; CANCER GENETICS; CANCER SUSCEPTIBILITY; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA DAMAGE; DNA STRAND BREAKAGE; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SEQUENCE HOMOLOGY;

BREAST NEOPLASMS; FEMALE; GENE FREQUENCY; GERM-LINE MUTATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; OVARIAN NEOPLASMS; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33845655908     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.canlet.2006.01.021     Document Type: Article

References (28)

1. Rahman N., and Stratton M.R. The genetics of breast cancer susceptibility. Annu. Rev. Genet. 32 (1998) 95-121
2. Easton D.F. How many more breast cancer predisposition genes are there?. Breast Cancer Res. 1 (1999) 14-17
3. Nathanson K.L., and Weber B.L. 'Other' breast cancer susceptibility genes: searching for more holy grail. Hum. Mol. Genet. 10 (2001) 715-720
4. Pharoah P.D., Antoniou A., Bobrow M., Zimmern R.L., Easton D.F., and Ponder B.A. Polygenic susceptibility to breast cancer and implications for prevention. Nat. Genet. 31 (2002) 33-36
5. Iwabuchi K., Bartel P.L., Li B., Marraccino R., and Fields S. Two cellular proteins that bind to wild-type but not mutant p53. Proc. Natl Acad. Sci. USA 91 (1994) 6098-6102
6. Iwabuchi K., Li B., Massa H.F., Trask B.J., Date T., and Fields S. Stimulation of p53-mediated transcriptional activation by the p53-binding proteins 53BP1 and 53BP2. J. Biol. Chem. 273 (1998) 26061-26068
7. Lengauer C., Kinzler K.W., and Vogelstein B. Genome instabilities in human cancers. Nature 396 (1998) 643-649
8. Shiloh Y., and Kastan M.B. ATM: genomic stability, neuronal development, and cancer cross paths. Adv. Cancer Res. 83 (2001) 209-254
9. Koonin E.V., Altschul S.F., and Bork P. BRCA1 protein products.... Functional motifs.... Nat. Genet. 13 (1996) 266-268
10. Bork P., Hofmann K., Bucher P., Neuwald A.F., Altschul S.F., and Koonin E.V. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. Fed. Am. Soc. Exp. Biol. J. 11 (1997) 68-76
11. Callebaut I., and Mornon J.P. From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. Fed. Eur. Biochem. Soc. Lett. 400 (1997) 25-30
12. Iwabuchi K., Basu B.P., Kysela B., Kurihara T., Shibata M., Guan D., et al. Potential role for 53BP1 in DNA end-joining repair through direct interaction with DNA. J. Biol. Chem. 278 (2003) 36487-36495
13. Charier G., Couprie J., Alpha-Bazin B., Meyer V., Quemeneur E., Guerois R., et al. The tudor tandem of 53BP1: a new structural motif involved in DNA and RG-rich peptide binding. Structure (Cambridge) 12 (2004) 1551-1562
14. Huyen Y., Zgheib O., DiTullio Jr. R.A., Gorgoulis V.G., Zacharatos P., Petty T.J., et al. Methylated lysine 79 of histone H3 targets 53BP1 to DNA double-strand breaks. Nature 432 (2004) 406-411
15. Rappold I., Iwabuchi K., Date T., and Chen J. Tumor suppressor p53 binding protein 1 (53BP1) is involved in DNA damage-signaling pathways. J. Cell Biol. 153 (2001) 613-620
16. DiTullio Jr. R.A., Mochan T.A., Venere M., Bartkova J., Sehested M., Bartek J., et al. 53BP1 functions in an ATM-dependent checkpoint pathway that is constitutively activated in human cancer. Nat. Cell Biol. 4 (2002) 998-1002
17. Wang B., Matsuoka S., Carpenter P.B., and Elledge S.J. 53BP1, a mediator of the DNA damage checkpoint. Science 298 (2002) 1435-1438
18. Kim S.-T., Xu B., and Kastan M.B. Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage. Genes Dev. 16 (2002) 560-570
19. Yazdi P.T., Wang Y., Zhao S., Patel N., Lee E.Y.-H.P., and Qin J. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. Genes Dev. 16 (2002) 571-582
20. O. Zgheib, Y. Huyen, R.A. DiTullio Jr., A. Snyder, M. Venere, E.S. Stavridi, et al., ATM signaling and 53BP1, Radiother. Oncol. 76 (2005) 119-122.
21. Huusko P., Pääkkönen K., Launonen V., Pöyhönen M., Blanco G., Kauppila A., et al. Evidence of founder mutations in Finnish BRCA1 and BRCA2 families. Am. J. Hum. Genet. 62 (1998) 1544-1548
22. Allinen M., Huusko P., Mäntyniemi S., Launonen V., and Winqvist R. Mutation analysis of the CHK2 gene in families with hereditary breast cancer. Br. J. Cancer 85 (2001) 209-212
23. Rapakko K., Allinen M., Syrjäkoski K., Vahteristo P., Huusko P., Vähäkangas K., et al. Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites. Br. J. Cancer 84 (2001) 116-119
24. Ganguly A., Rock M.J., and Prockop D.J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl Acad. Sci. USA 90 (1993) 10325-10329
25. Körkkö J., Annunen S., Pihlajamaa T., Prockop D.J., and Ala-Kokko L. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturating gradient gel electrophoresis and nucleotide sequencing. Proc. Natl Acad. Sci. USA 95 (1998) 1681-1685
26. Mochan T.A., Venere M., DiTullio Jr. R.A., and Halazonetis T.D. 53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response to DNA damage. Cancer Res. 63 (2003) 8586-8591
27. Ward I.M., Difilippantonio S., Minn K., Mueller M.D., Molina J.R., Yu X., et al. 53BP1 cooperates with p53 and functions as a haploinsufficient tumor suppressor in mice. Mol. Cell. Biol. 25 (2005) 10079-10086
28. Frank B., Hemminki K., Bermejo J.L., Klaes R., Bugert P., Wappenschmidt B., et al. TP53-binding protein variants and breast cancer risk: a case-control study. Breast Cancer Res. 7 (2005) R502-R505