Frequent alterations of MCPH1 and ATM are associated with primary breast carcinoma: Clinical and prognostic implications

Annals of Surgical Oncology

Volumn 20, Issue 3 SUPPL., 2013, Pages

  Bhattacharya, Nilanjana ^a   Mukherjee, Nupur ^a   Singh, Ratnesh K ^a,d   Sinha, Satyabrata ^a,d   Alam, Neyaz ^a   Roy, Anup ^b   Roychoudhury, Susanta ^c   Panda, Chinmay Kumar ^a  

^a CHITTARANJAN NATIONAL CANCER INSTITUTE   (India)

^b NORTH BENGAL MEDICAL COLLEGE   (India)

^c INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^d West Virginia University Eye Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; DEOXYRIBONUCLEOPROTEIN; DNA; ESTROGEN RECEPTOR; MCPH 1 PROTEIN; MESSENGER RNA; PROGESTERONE RECEPTOR; UNCLASSIFIED DRUG; ATM PROTEIN, HUMAN; MCPH1 PROTEIN, HUMAN; NERVE PROTEIN; TUMOR MARKER;

ARTICLE; BREAST CARCINOMA; CANCER GROWTH; CANCER PROGNOSIS; CANCER STAGING; DNA DAMAGE; EPIGENETICS; GENE DELETION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPH NODE; MAJOR CLINICAL STUDY; ONSET AGE; PROTEIN EXPRESSION; BREAST TUMOR; CONTROLLED STUDY; DNA METHYLATION; ENZYME IMMUNOASSAY; FEMALE; FOLLOW UP; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; PATHOLOGY; PROMOTER REGION; RANDOMIZED CONTROLLED TRIAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ATAXIA TELANGIECTASIA MUTATED PROTEINS; BREAST NEOPLASMS; DNA METHYLATION; FEMALE; FOLLOW-UP STUDIES; GENE DELETION; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IMMUNOENZYME TECHNIQUES; NEOPLASM STAGING; NERVE TISSUE PROTEINS; PROMOTER REGIONS, GENETIC; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TUMOR MARKERS, BIOLOGICAL;

EID: 84892787608     PISSN: 10689265     EISSN: 15344681     Source Type: Journal    
DOI: 10.1245/s10434-012-2715-6     Document Type: Article

References (41)

1. Ferlay J, Shin HR, Bray F, et al. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer. 2010;127:2893-917.
2. Sen U, Sankaranarayanan R, Mandal S, et al. Cancer patterns in eastern India: the first report of the Kolkata cancer registry. Int J Cancer. 2002;100:86-91.
3. Ellsworth RE, Decewicz DJ, Shriver CD. Breast cancer in the personal genomics era. Curr Genomics. 2010;11:146-61.
4. Weigel MT, Dowsett M. Current and emerging biomarkers in breast cancer: prognosis and prediction. Endocr Relat Cancer. 2010;17:R245-62.
5. Albain KS, Allred DC, Clark GM. Breast cancer outcome and predictors of outcome: are there age differentials? J Natl Cancer Inst Monogr. 1994;16:35-42.
6. Sinha S, Chunder N, Mukherjee N, et al. Frequent deletion and methylation in SH3GL2 and CDKN2A loci are associated with early- and late-onset breast carcinoma. Ann Surg Oncol. 2008;15:1070-80.
7. Xu K, Cui J, Olman V, et al. A comparative analysis of geneexpression data of multiple cancer types. Plos One. 2010;5:e13696.
8. Lin SH, Liang Y, Li K. Multiple roles of BRIT1/MCPH1 in DNA damage response, DNA repair, and cancer suppression. Yonsei Med J. 2010;51:295-301.
9. Chaplet M, Rai R, Jackson-Bernitsas D, et al. BRIT1/MCPH1: a guardian of genome and an enemy of tumors. Cell Cycle. 2006;5:2579-83.
10. Rai R, Dai H, Multani AS, et al. BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. Cancer Cell. 2006;10:145-57.
11. Liang Y, Gao H, Lin SY, et al. BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice. PLoS Genet. 2010;6:e1000826.
12. Bhattacharya N, Chunder N, Basu D, et al. Three discrete areas within the chromosomal 8p21.3-23 region are associated with the development of breast carcinoma of Indian patients. Exp Mol Pathol. 2004;76:264-71.
13. Radford DM, Fair KL, Phillips NJ, et al. Allelotyping of ductal carcinoma in situ (DCIS) of the breast; deletion of loci on 8p, 13q, 16q, 17p and 17q. Cancer Res. 1995;55:3399-405.
14. Wistuba BC, Virmani AK, Milchgrub S, et al. Allelic losses at chromosome 8p21-23 are early and frequent events in the pathogenesis of lung cancer. Cancer Res. 1999;59:1973-9.
15. Trimborn M, Bell SM, Felix C, et al. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet. 2004;75:261-6.
16. Richardson J, Shaaban AM, Kamal M, et al. Microcephalin is a new novel prognostic indicator in breast cancer associated with BRCA1 inactivation. Breast Cancer Res Treat. 2011;127:639-48.
17. Chunder N, Mandal S, Roy A, et al. Differential association of BRCA1 and BRCA2 genes with some breast cancer-associated genes in early and late onset breast tumors. Ann Surg Oncol. 2004;11:1045-55.
18. Ding SL, Sheu LF, Yu JC, et al. Abnormality of the DNA doublestrand- break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade. Br J Cancer. 2004; 90:1995-2001.
19. Prokopcova J, Kleibl Z, Banwell MC, et al. The role of ATM in breast cancer development. Cancer Res Treat. 2007;104:121-8.
20. Treilleux I, Chapot B, Goddard S, et al. The molecular causes of low ATM protein expression in breast carcinoma; promoter methylation and levels of the catalytic subunit of DNA-dependent protein kinase. Histopathology. 2007;51:63-9.
21. Ye C, Cai Q, Dai Q, et al. Expression patterns of the ATM gene in mammary tissues and their associations with breast cancer survival. Cancer. 2007;109:1729-35.
22. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta DeltaC( T)) method. Methods. 2001;25:402-8.
23. Dasgupta S, Mukherjee N, Roy S, et al. Mapping of candidate tumor suppressor genes' loci on human chromosome 3 in head and neck squamous cell carcinoma of Indian patient population. Oral Oncol. 2002;38:6-15.
24. Ivanova T, Petrenko A, Gritsko T, et al. Methylation and silencing of the retinoic acid receptor-b2 gene in cervical cancer. BMC Cancer. 2002;2:4.
25. Herman JG, Graff JR, Myohanen S, et al. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA. 1996;93:9821-6.
26. Tripathi Bhar A, Banerjee S, Chunder N, et al. Differential alterations of the genes in the CDKN2A-CCND1-CDK4-RB1 pathway are associated with the development of head and neck squamous cell carcinoma in Indian patients. J Can Res Clin Oncol. 2003;129:642-50.
27. Perrone F, Suardi S, Pastore E, et al. Molecular and cytogenetic subgroups of oropharyngeal squamous cell carcinoma. Clin Cancer Res. 2006;12:6643-51.
28. Mitra S, Mazumder (Indra) D, Bhattacharya N, et al. RBSP3 is frequently altered in premalignant cervical lesions: clinical and prognostic significance. Gene Chromosome Cancer. 2010; 49:155-70.
29. Hammond ME, Hayes DF, Dowsett M, et al. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. J Clin Oncol. 2010;28:2784-95.
30. Knudson AG. Genetics and etiology of human cancer. Adv Hum Genet. 1977;8:1-66.
31. Dey S, Boffetta P, Mathews A, et al. Risk factors according to estrogen receptor status of breast cancer patients in Trivandrum, South India. Int J Cancer. 2009;125:1663-70.
32. Kakarala M, Rozek L, Cote M, et al. Breast cancer histology and receptor status characterization in Asian Indian and Pakistani women in the US-a SEER analysis. BMC Cancer. 2010;10:191.
33. Vo QN, Kim WJ, Cvitanovic L, et al. The ATM gene is a target for epigenetic silencing in locally advanced breast cancer. Oncogene. 2004;23:9432-7.
34. Brandes JC, Carraway H, Herman JG, et al. Optimal primer design using the novel primer design program: MSP primer provides accurate methylation analysis of the ATM promoter. Oncogene. 2007;26:6229-37.
35. Bilbao C, Ram?rez R, Rodr?guez G, et al. Double strand break repair components are frequent targets of microsatellite instability in endometrial cancer. Eur J Cancer. 2010;46:2821-7.
36. Bartek J, Lukas J, Bartkova J. DNA damage response as an anticancer barrier: damage threshold and the concept of ''conditional haploinsufficiency.'' Cell Cycle. 2007;6:2344-7.
37. Rai R, Phadnis A, Haralkar S, et al. Differential regulation of centrosome integrity by DNA damage response proteins. Cell Cycle. 2008;7:2225-33.
38. Tommiska J, Bartkova J, Heinonen M, et al. The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/ BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer. Oncogene. 2008;27:2501-6.
39. Angéle S, Treilleux I, Taniére P, et al. Abnormal expression of the ATM and TP53 genes in sporadic breast carcinomas. Clin Cancer Res. 2000;6:3536-44.
40. Shen CY, Yu JC, Lo YL, et al. Genome-wide search for loss of heterozygosity using laser capture microdissected tissue of breast carcinoma: an implication for mutator phenotype and breast cancer pathogenesis. Cancer Res. 2000;60:3884-92.
41. Bozhanov SS, Angelova SG, Krasteva ME, et al. Alterations in p53, BRCA1, ATM, PIK3CA, and HER2 genes and their effect in modifying clinicopathological characteristics and overall survival of Bulgarian patients with breast cancer. J Cancer Res Clin Oncol. 2010;136:1657-69.