Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes

Breast Cancer Research and Treatment

Volumn 132, Issue 1, 2012, Pages 29-39

  Boyault, Sandrine ^a   Drouet, Youenn ^a,d   Navarro, Claudine ^a   Bachelot, Thomas ^a   Lasset, Christine ^a,d   Treilleux, Isabelle ^a   Tabone, Eric ^a   Puisieux, Alain ^a,b,c   Wang, Qing ^a  

^a CENTRE LÉON BÉRARD   (France)

^b INSERM   (France)

^c UNIVERSITÉ LYON 1   (France)

^d UNIVERSITÉ DE LYON   (France)

Author keywords

Breast cancer; Mutation screening; PI3K pathway; TP53 mutation

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; GENOMIC DNA; HORMONE RECEPTOR;

AKT1 GENE; ARTICLE; BREAST TUMOR; CDH1 GENE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PIK3CA GENE; PRIORITY JOURNAL; PTEN GENE; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TP53 GENE; TUMOR GENE;

ADULT; AGED; BREAST NEOPLASMS; CADHERINS; CARCINOMA, DUCTAL, BREAST; CARCINOMA, LOBULAR; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; KAPLAN-MEIER ESTIMATE; MIDDLE AGED; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS C-AKT; PTEN PHOSPHOHYDROLASE; RECEPTORS, STEROID; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84857921336     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1518-y     Document Type: Article

References (44)

1. Perou CM, Sørlie T, Eisen MB et al (2000) Molecular portraits of human breast tumors. Nature 406:747-752
2. Hugh J, Hanson J, Cheang MC et al (2009) Breast cancer subtypes and response to docetaxel in node-positive breast cancer: use of an immunohistochemical definition in the BCIRG 001 trial. J Clin Oncol 8:1168-1176
3. Sjöblom T, Jones S, Wood LD et al (2006) The consensus coding sequences of human breast and colorectal cancers. Science 314:268-274 (Pubitemid 44571966)
4. Wood LD, Parsons DW, Jones S et al (2007) The genomic landscapes of human breast and colorectal cancers. Science 318:1108-1113 (Pubitemid 350134889)
5. Greenman C, Stephens P, Smith R et al (2007) Patterns of somatic mutation in human cancer genomes. Nature 446:153-158 (Pubitemid 46398669)
6. Olivier M, Langerød A, Carrieri P et al (2006) The clinical value of TP53 gene mutations in 1,794 patients with breast cancer. Clin Cancer Res 12:1157-1167 (Pubitemid 43342504)
7. Langerød A, Zhao H, Borgan Ø et al (2007) TP53 mutation status and gene expression profiles are powerful prognostic markers of breast cancer. Breast Cancer Res 9:R30
8. Engelman JA, Luo J, Cantley LC (2006) The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. Nat Rev Genet 7:606-619 (Pubitemid 44100518)
9. Jiang BF, Liu LZ (2009) PI3K/PTEN signaling in angiogenesis and tumorigenesis. Adv Cancer Res 102:19-65
10. Miled N, Yan Y, Hon WC et al (2007) Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit. Science 317:239-242 (Pubitemid 47076198)
11. Huang CH, Mandelker D, Schmidt-Kittler O et al (2007) The structure of a human p110alpha/p85alpha complex elucidates the effects of oncogenic PI3Kalpha mutations. Science 318:1744-1748 (Pubitemid 350274378)
12. Li SY, Rong M, Grieu F, Iacopetta B (2006) PIK3CA mutations in breast cancer are associated with poor outcome. Breast Cancer Res Treat 96:91-95
13. Saal LH, Holm K, Maurer M et al (2005) PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. Cancer Res 65:2554-2559 (Pubitemid 40490050)
14. Pérez-Tenorio G, Alkhori L, Olsson B et al (2007) PIK3CA mutations and PTEN loss correlated with similar prognostic factors and are not mutually exclusive in breast cancer. Clin Cancer Res 13:3577-3584 (Pubitemid 46955118)
15. Kalinsky K, Jacks LM, Heguy A et al (2009) PIK3CA mutation associates with improved outcome in breast cancer. Clin Cancer Res 15:5049-5059
16. López-Knowles E, O'Toole SA, McNeil CM et al (2009) PI3K pathway activation in breast cancer is associated with the basallike phenotype and cancer-specific mortality. Int J Cancer 126:1121-1131
17. Carpten JD, Faber AL, Horn C, Donoho GP et al (2007) A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. Nature 448:439-445
18. Yin Y, Shen WH (2008) PTEN: a new guardian of the genome. Oncogene 27:5443-5453
19. Schrader KA, Masciari S, Boyd N et al (2008) Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer 7:73-82
20. Bertucci F, Orsetti B, Nègre V et al (2008) Lobular and ductal carcinomas of the breast have distinct genomic and expression profiles. Oncogene 27:5359-5372
21. Engelman JA (2009) Targeting PI3K signaling in cancer: opportunities, challenges and limitations. Nat Rev Cancer 9:550-562
22. Brown CJ, Lain S, Verma CS, Fersht AR, Lane DP (2009) Awakening guardian angels: drugging the p53 pathway. Nat Rev Cancer 9:862-873
23. Mehta CR, Patel NR (1986) Algorithm 643. FEXACT: a Fortran subroutine for Fisher's exact test on unordered r*c contingency tables. ACM Trans Math Softw 12:154-161
24. Clarkson DB, Fan Y, Joe H (1993) A remark on algorithm 643: FEXACT: an algorithm for performing Fisher's Exact Test in r x c contingency tables. ACM Trans Math Softw 19:484-488
25. Berx G, Becker KF, Höfler H, van Roy F (1998) Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 12:226-237 (Pubitemid 28418891)
26. Huiping C, Kristjansdottir S, Jonasson JG, Magnusson J, Egilsson V, Ingvarsson S (2001) Alterations of E-cadherin and beta-catenin in gastric cancer. BMC cancer 1:16
27. Salahshor S, Haixin L, Huo H et al (2001) Low frequency of E-cadherin alterations in familial breast cancer. Breast Cancer Res 3:199-207 (Pubitemid 32390221)
28. Murugan AK, Hong NT, Fukui Y, Munirajan AK, Tsuchida N (2008) Oncogenic mutations of the PIK3CA gene in head and neck squamous cell carcinomas. Int J Oncol 32:101-111 (Pubitemid 351176067)
29. Catasus L, Gallardo A, Cuatrecasas M, Prat J (2008) PIK3CA mutations in the kinase domain (exon 20) of uterine endometrial adenocarcinomas are associated with adverse prognostic parameters. Mod Pathol 21:131-139 (Pubitemid 351172164)
30. Holstege H, Joosse SA, van Oostrom CT, Nederlof PM, de Vries A, Jonkers J (2009) High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. Cancer Res 69:3625-3633
31. Manié E, Vincent-Salomon A, Lehmann-Che J et al (2009) High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal tumors. Cancer Res 69:663-671
32. Baker L, Quinlan PR, Patten N et al (2010) p53 mutation, deprivation and poor prognosis in primary breast cancer. Br J Cancer 102:719-726
33. Zhou W, Muggerud AA, Vu P et al (2009) Full sequencing of TP53 identifies identical mutations within in situ and invasive components in breast cancer suggesting clonal evolution. Mol Oncol 3:214-219
34. Offersen BV, Alsner J, Ege Olsen K et al (2008) A comparison among HER2, TP53, PAI-1, angiogenesis, and proliferation activity as prognostic variables in tumors from 408 patients diagnosed with early breast cancer. Acta Oncol 47:618-632 (Pubitemid 351878436)
35. Petitjean A, Mathe E, Kato S et al (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28:622-629 (Pubitemid 46744292)
36. Rhei E, Kang L, Bogomolniy F, Federici MG, Borgen PI, Boyd J (1997) Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. Cancer Res 57:3657-3659 (Pubitemid 27381202)
37. Ueda K, Nishijima M, Inui H et al (1998) Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers. Jpn J Cancer Res 89:17-21 (Pubitemid 28067505)
38. Stemke-Hale K, Gonzalez-Angulo AM, Lluch A et al (2008) An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Cancer Res 68:6084-6091
39. Marty B, Maire V, Gravier E et al (2008) Frequent PTEN genomic alterations and activated phosphatidylinositol 3-kinase pathway in basal-like breast cancer cells. Breast Cancer Res 10:R101
40. Muggerud AA, Rønneberg JA, Wärnberg F et al (2010) Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer. Breast Cancer Res 12:R3
41. Michelucci A, Di Cristofano C, Lami A et al (2009) PIK3CA in breast carcinoma: a mutational analysis of sporadic and hereditary cases. Diag Mol Pathol 18:200-205
42. Righetti SC, Della Torre G, Pilotti S et al (1996) A comparative study of p53 gene mutations, protein accumulation, and response to cisplatin-based chemotherapy in advanced ovarian carcinoma. Cancer Res 56:689-693 (Pubitemid 26055453)
43. Di Cintio A, Di Gennaro E, Budillon A (2010) Restoring p53 function in cancer: novel therapeutic approaches for applying the brakes to tumorigenesis. Recent Pat Anticancer Drug Discov 5:1-13
44. Ghayad S, Cohen PA (2010) Inhibitors of the PI3K/Akt/mTOR pathway: new hope for breast cancer patients. Recent Pat Anticancer Drug Discov 5:29-57