Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population

Breast Cancer Research and Treatment

Volumn 119, Issue 2, 2010, Pages 295-303

  Cao, A Yong ^a   Jin, Wei ^a   Shi, Peng Cheng ^a   Di, Gen Hong ^a   Shen, Zhen Zhou ^a   Shao, Zhi Ming ^a  

^a FUDAN UNIVERSITY   (China)

Author keywords

Breast cancer; Germ line mutation; Non LFL non LFS; P53

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PROTEIN P21; PROTEIN P27; PROTEIN P53;

APOPTOSIS; ARTICLE; BREAST CANCER; BREAST DISEASE; CHINESE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FAMILIAL CANCER; FEMALE; FLOW CYTOMETRY; GERM LINE; HIGH RISK PATIENT; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MUTATION; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; TRANSCRIPTION INITIATION; WESTERN BLOTTING;

ADULT; AGE OF ONSET; APOPTOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, WESTERN; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL LINE, TUMOR; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; LI-FRAUMENI SYNDROME; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RISK FACTORS; TIME FACTORS; TRANSCRIPTIONAL ACTIVATION; TRANSFECTION; TUMOR SUPPRESSOR PROTEIN P53;

EID: 74849088936     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-009-0349-6     Document Type: Article

References (26)

1. AL Borresen 1992 Role of genetic factors in breast cancer susceptibility Acta Oncol 31 151 155 10.3109/02841869209088896 10.3109/02841869209088896 1:STN:280:DyaK38zit1antw%3D%3D 1622629
2. T Walsh MC King 2007 Ten genes for inherited breast cancer Cancer Cell 11 103 105 10.1016/j.ccr.2007.01.010 10.1016/j.ccr.2007.01.010 1:CAS:528:DC%2BD2sXitVartLw%3D 17292821 (Pubitemid 46209856)
3. S Manoukian B Peissel V Pensotti, et al. 2007 Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families Eur J Cancer 43 601 606 10.1016/j.ejca.2006.09.024 10.1016/j.ejca.2006.09.024 1:CAS:528: DC%2BD2sXhsVSjsb0%3D 17224268 (Pubitemid 46177595)
4. P May E May 1999 Twenty years of p53 research: structural and functional aspects of the p53 protein Oncogene 18 7621 7636 10.1038/sj.onc.1203285 10.1038/sj.onc.1203285 1:CAS:528:DC%2BD3cXmt1Skuw%3D%3D 10618702
5. WF Li Z Hu NY Rao, et al. 2008 The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified Breast Cancer Res Treat 110 99 109 10.1007/s10549-007-9708-3 10.1007/s10549-007-9708-3 1:CAS:528: DC%2BD1cXmslyjsrg%3D 17851763 (Pubitemid 351793864)
6. E Gross M Kiechle N Arnold 2001 Mutation analysis of p53 in ovarian tumors by DHPLC J Biochem Biophys Methods 47 73 81 10.1016/S0165-022X(00)00153-6 10.1016/S0165-022X(00)00153-6 1:CAS:528:DC%2BD3MXhtFeitLg%3D 11179763 (Pubitemid 32155477)
7. K Shinmura H Tao M Goto, et al. 2004 Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer Carcinogenesis 25 2311 2317 10.1093/carcin/bgh267 10.1093/carcin/bgh267 1:CAS:528:DC%2BD2cXhtVCrsrrF 15319300 (Pubitemid 39625170)
8. BB Aggarwal S Banerjee U Bharadwaj, et al. 2007 Curcumin induces the degradation of cyclin E expression through ubiquitin-dependent pathway and up-regulates cyclin-dependent kinase inhibitors p21 and p27 in multiple human tumor cell lines Biochem Pharmacol 73 1024 1032 10.1016/j.bcp.2006.12.010 10.1016/j.bcp.2006.12.010 1:CAS:528:DC%2BD2sXitFOlt7o%3D 17240359 (Pubitemid 46283583)
9. XZ Chang DQ Li YF Hou, et al. 2007 Identification of the functional role of peroxiredoxin 6 in the progression of breast cancer Breast Cancer Res 9 R76 10.1186/bcr1789 10.1186/bcr1789 17980029
10. W Xia JS Chen X Zhou, et al. 2004 Phosphorylation/cytoplasmic localization of p21Cip1/WAF1 is associated with HER2/neu overexpression and provides a novel combination predictor for poor prognosis in breast cancer patients Clin Cancer Res 10 3815 3824 10.1158/1078-0432.CCR-03-0527 10.1158/1078-0432.CCR-03-0527 1:CAS:528:DC%2BD2cXksVKnt70%3D 15173090 (Pubitemid 38697617)
11. RS Nho RJ Sheaff 2003 p27kip1 contributions to cancer Prog Cell Cycle Res 5 249 259 14593719
12. MPFP Lux MW Beckmann 2006 Hereditary breast and ovarian cancer: review and future perspectives J Mol Med 84 16 28 10.1007/s00109-005-0696-7 10.1007/s00109-005-0696-7 16283147 (Pubitemid 43099520)
13. V Balz HB Prisack H Bier, et al. 2002 Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families Cancer Genet Cytogenet 138 120 127 10.1016/S0165-4608(02)00601-5 10.1016/S0165-4608(02) 00601-5 1:CAS:528:DC%2BD38XpslSns7Y%3D 12505256 (Pubitemid 36020466)
14. DG Evans JM Birch M Thorneycroft, et al. 2002 Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome J Med Genet 39 941 944 10.1136/jmg.39.12.941 10.1136/jmg.39.12.941 1:STN:280:DC%2BD38jht1entw%3D%3D 12471212
15. S Hedau N Jain SA Husain, et al. 2004 Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India Breast Cancer Res Treat 88 177 186 10.1007/s10549-004-0593-8 10.1007/s10549-004-0593-8 1:CAS:528:DC%2BD2MXoslOktw%3D%3D 15564800
16. AM Martin PA Kanetsky B Amirimani, et al. 2003 Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1? J Med Genet 40 e34 10.1136/jmg.40.4.e34 10.1136/jmg.40.4.e34 12676907
17. UA Patel M Perry C Crane-Robinson 1995 Screening for germline mutations of the p53 gene in familial breast cancer patients Eur J Clin Invest 25 132 137 10.1111/j.1365-2362.1995.tb01538.x 10.1111/j.1365-2362.1995.tb01538.x 1:CAS:528:DyaK2MXltlGiu7w%3D 7737263
18. K Rapakko M Allinen K Syrjakoski, et al. 2001 Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites Br J Cancer 84 116 119 10.1054/bjoc.2000.1530 10.1054/bjoc.2000.1530 1:CAS:528:DC%2BD3MXpvVWmtA%3D%3D 11139324 (Pubitemid 32102515)
19. D Sidransky T Tokino K Helzlsouer, et al. 1992 Inherited p53 gene mutations in breast cancer Cancer Res 52 2984 2986 1:CAS:528:DyaK38Xkt1equ74%3D 1581912
20. W Xiao PJ Oefner 2001 Denaturing high-performance liquid chromatography: a review Hum Mutat 17 439 474 10.1002/humu.1130 10.1002/humu.1130 1:CAS:528:DC%2BD3MXks1antr4%3D 11385705 (Pubitemid 32480082)
21. RJ Jones Q Chen PM Voorhees, et al. 2008 Inhibition of the p53 E3 ligase HDM-2 induces apoptosis and DNA damage-independent p53 phosphorylation in mantle cell lymphoma Clin Cancer Res 14 5416 5425 10.1158/1078-0432.CCR-08-0150 10.1158/1078-0432.CCR-08-0150 1:CAS:528:DC%2BD1cXhtVKmsbvJ 18765533
22. A Shimada S Kato K Enjo, et al. 1999 The transcriptional activities of p53 and its homologue p51/p63: similarities and differences Cancer Res 59 2781 2786 1:CAS:528:DyaK1MXktVOktbY%3D 10383130 (Pubitemid 29283107)
23. Z Hu J Wu CH Liu, et al. 2003 The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives Hum Mutat 22 104 10.1002/humu.9156 10.1002/humu.9156 12815604
24. Cao AY, Huang J, Hu Z, et al (2008) The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat. doi: 10.1007/s10549-008-0036-z (in press)
25. Cao AY, Huang J, Hu Z, et al (2008) Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat. doi: 10.1007/s10549-008-0052-z (in press)
26. CG Song Z Hu WT Yuan, et al. 2006 CHEK2 c.1100delC may not contribute to genetic background of hereditary breast cancer from Shanghai of China Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23 443 445 1:CAS:528:DC%2BD2sXhtFejsr3K 16883537