Genomic profiling of breast cancer.

Genome study provides significant changes in the advancement of molecular diagnosis and treatment in Breast cancer. Several recent critical advances and high-throughput techniques identified the genomic trouble and dramatically accelerated the pace of research in preventing and curing this malignancy. Tumor-suppressor genes, Proto-oncogenes, DNA-repair genes, Carcinogen-metabolism genes are critically involved in progression of breast cancer. We reviewed imperative finding in breast genetics, ongoing work to segregate further susceptible genes, and preliminary studies on molecular profiling. J. Surg. Oncol. 2009;99:386–392. © 2009 Wiley-Liss, Inc.

[1]  J. Chang-Claude,et al.  A pilot genome-wide association study of early-onset breast cancer , 2009, Breast Cancer Research and Treatment.

[2]  Angel Porgador,et al.  Cell type-specific DNA methylation patterns in the human breast , 2008, Proceedings of the National Academy of Sciences.

[3]  S. Taheri,et al.  Methylation status of CpG islands at sites −59 to +96 in exon 1 of the BRCA2 gene varies in mammary tissue among women with sporadic breast cancer , 2008, Journal of Genetics.

[4]  Zhi Hu,et al.  An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. , 2008, Cancer research.

[5]  Sampsa Hautaniemi,et al.  Deciphering downstream gene targets of PI3K/mTOR/p70S6K pathway in breast cancer , 2008, BMC Genomics.

[6]  Stephen L. Abrams,et al.  Suppression of PTEN function increases breast cancer chemotherapeutic drug resistance while conferring sensitivity to mTOR inhibitors , 2008, Oncogene.

[7]  Katri Pylkäs,et al.  Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families , 2008, BMC Cancer.

[8]  Y. Bignon,et al.  DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk , 2008, Molecular Cancer.

[9]  X. Shu,et al.  Her-2/neu amplification and breast cancer survival: results from the Shanghai breast cancer study. , 2008, Oncology reports.

[10]  S. Hill,et al.  Period-2: a tumor suppressor gene in breast cancer , 2008, Journal of circadian rhythms.

[11]  S. Kim,et al.  Promoter hypomethylation of the N-acetyltransferase 1 gene in breast cancer. , 2008, Oncology reports.

[12]  Å. Borg,et al.  BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer , 2008, Acta oncologica.

[13]  Yun Wang,et al.  Differential effect of over-expressing UGT1A1 and CYP1A1 on xenobiotic assault in MCF-7 cells. , 2007, Toxicology.

[14]  F. Monti,et al.  p27 and Skp2 immunoreactivity and its clinical significance with endocrine and chemo-endocrine treatments in node-negative early breast cancer. , 2007, Annals of oncology : official journal of the European Society for Medical Oncology.

[15]  C. Reymundo,et al.  Proto-oncogene HER-2 in normal, dysplastic and tumorous feline mammary glands: an immunohistochemical and chromogenic in situ hybridization study , 2007, BMC Cancer.

[16]  C. Banwell,et al.  The role of ATM in breast cancer development , 2007, Breast Cancer Research and Treatment.

[17]  K. M. Reddy,et al.  Epidemiology and patterns of care for invasive breast carcinoma at a community hospital in Southern India , 2007, World journal of surgical oncology.

[18]  R. Murphy,et al.  DNA methylation in breast and colorectal cancers , 2007, Modern Pathology.

[19]  A. Hofman,et al.  Estrogen receptor α polymorphisms and postmenopausal breast cancer risk , 2007, Breast Cancer Research and Treatment.

[20]  E. Knudsen,et al.  RB in Breast Cancer: The Crossroads of Tumorigenesis and Treatment , 2007, Cell cycle.

[21]  P. Johnston,et al.  BRCA1, a potential predictive biomarker in the treatment of breast cancer. , 2007, The oncologist.

[22]  S. Lowe,et al.  The retinoblastoma tumor suppressor modifies the therapeutic response of breast cancer. , 2007, The Journal of clinical investigation.

[23]  S. Dong,et al.  Nuclear Factor-κB p65 Inhibits Mitogen-Activated Protein Kinase Signaling Pathway in Radioresistant Breast Cancer Cells , 2006, Molecular Cancer Research.

[24]  D. Hardy,et al.  Role of the progesterone receptor (PR) in the regulation of inflammatory response pathways and aromatase in the breast , 2006, The Journal of Steroid Biochemistry and Molecular Biology.

[25]  H. Kreipe,et al.  Prognostic impact of Skp2 and p27 in human breast cancer , 2006, Breast Cancer Research and Treatment.

[26]  T. Utsunomiya,et al.  Significance of skp2 expression in primary breast cancer. , 2006, Clinical cancer research : an official journal of the American Association for Cancer Research.

[27]  D. Mukhopadhyay The tumor suppressor von Hippel-Lindau gene product and metastasis: new thoughts on an old molecule. , 2006, The American journal of pathology.

[28]  W. Kaelin,et al.  Clusterin is a secreted marker for a hypoxia-inducible factor-independent function of the von Hippel-Lindau tumor suppressor protein. , 2006, The American journal of pathology.

[29]  F. Schmitt,et al.  DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil. , 2005, Genetics and molecular research : GMR.

[30]  Zhenzhong Zhang,et al.  Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. , 2005, Clinica chimica acta; international journal of clinical chemistry.

[31]  D. Grobbee,et al.  Cumulative genetic defects in carcinogen metabolism may increase breast cancer risk (The Netherlands) , 2005, Cancer Causes & Control.

[32]  E. van Limbergen,et al.  Association between tumour characteristics and HER-2/neu by immunohistochemistry in 1362 women with primary operable breast cancer , 2005, Journal of Clinical Pathology.

[33]  N. Almasri,et al.  Immunohistochemical evaluation of human epidermal growth factor receptor 2 and estrogen and progesterone receptors in breast carcinoma in Jordan , 2005, Breast Cancer Research.

[34]  M. Daly,et al.  Genome-wide association studies for common diseases and complex traits , 2005, Nature Reviews Genetics.

[35]  M. Miyaki,et al.  Germline Mutation of the LKB1/STK11 Gene with Loss of the Normal Allele in an Aggressive Breast Cancer of Peutz-Jeghers Syndrome , 2005, Oncology.

[36]  R. Siebert,et al.  ST18 is a breast cancer tumor suppressor gene at human chromosome 8q11.2 , 2004, Oncogene.

[37]  Ashish K. Mandal,et al.  Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India , 2004, Breast Cancer Research and Treatment.

[38]  E. J. Neves,et al.  Gene expression profiles in breast tumors regarding the presence or absence of estrogen and progesterone receptors , 2004, International journal of cancer.

[39]  Douglas Easton,et al.  The Genetic Epidemiology of Breast Cancer Genes , 2004, Journal of Mammary Gland Biology and Neoplasia.

[40]  T. Frebourg,et al.  Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome , 2004, European Journal of Human Genetics.

[41]  Y. Miyoshi,et al.  Absence of mutations in the Wilms' tumor gene WT1 in primary breast cancer. , 2004, Japanese journal of clinical oncology.

[42]  Satya N. Das,et al.  Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast‐ovarian cancer families , 2004, Human mutation.

[43]  S. Spivack,et al.  Phase I and II carcinogen metabolism gene expression in human lung tissue and tumors. , 2003, Clinical cancer research : an official journal of the American Association for Cancer Research.

[44]  D. Cox,et al.  Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. , 2003, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[45]  K. Humphreys,et al.  Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk. , 2003, Carcinogenesis.

[46]  R. Sinha,et al.  Cancer risk and diet in India. , 2003, Journal of postgraduate medicine.

[47]  S. Ramaswamy,et al.  Oncogenic role of the ubiquitin ligase subunit Skp2 in human breast cancer. , 2002, The Journal of clinical investigation.

[48]  Y. Miyoshi,et al.  High expression of Wilms' tumor suppressor gene predicts poor prognosis in breast cancer patients. , 2002, Clinical cancer research : an official journal of the American Association for Cancer Research.

[49]  M. Gentile,et al.  Candidate tumour suppressor genes at 11q23–q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis , 2001, Oncogene.

[50]  G. Mills,et al.  The role of genetic abnormalities of PTEN and the phosphatidylinositol 3-kinase pathway in breast and ovarian tumorigenesis, prognosis, and therapy. , 2001, Seminars in oncology.

[51]  T. Shimada,et al.  Metabolic activation of polycyclic aromatic hydrocarbons and other procarcinogens by cytochromes P450 1A1 and P450 1B1 allelic variants and other human cytochromes P450 in Salmonella typhimurium NM2009. , 2001, Drug metabolism and disposition: the biological fate of chemicals.

[52]  D. Spandidos,et al.  Von Hippel-Lindau Tumour Suppressor Gene Is Not Involved in Sporadic Human Breast Cancer , 2001, Tumor Biology.

[53]  C. B. Patel,et al.  Wilms' tumor suppressor gene (WT1) is expressed in primary breast tumors despite tumor-specific promoter methylation. , 2001, Cancer research.

[54]  Y. Yarden,et al.  Untangling the ErbB signalling network , 2001, Nature Reviews Molecular Cell Biology.

[55]  B. Trock,et al.  C-myc amplification in breast cancer: a meta-analysis of its occurrence and prognostic relevance , 2000, British Journal of Cancer.

[56]  D. Liao,et al.  c-Myc in breast cancer. , 2000, Endocrine-related cancer.

[57]  Christian A. Rees,et al.  Molecular portraits of human breast tumours , 2000, Nature.

[58]  Nissi M. Varki,et al.  Ras activation in human breast cancer , 2000, Breast Cancer Research and Treatment.

[59]  R. Ádány,et al.  Mutation of the RB1 gene caused unilateral retinoblastoma in early Age. , 2000, Cancer genetics and cytogenetics.

[60]  S. Devries,et al.  Chromosomal alterations in ductal carcinomas in situ and their in situ recurrences. , 2000, Journal of the National Cancer Institute.

[61]  S. Culine,et al.  Relating genotype and phenotype in breast cancer: an analysis of the prognostic significance of amplification at eight different genes or loci and of p53 mutations. , 2000, Cancer research.

[62]  Q. Li,et al.  Recombinant adenovirus expressing Von Hippel-Lindau-mediated cell cycle arrest is associated with the induction of cyclin-dependent kinase inhibitor p27Kip1. , 1998, Biochemical and biophysical research communications.

[63]  C. Jefcoate,et al.  Characterization of CYP1B1 and CYP1A1 expression in human mammary epithelial cells: role of the aryl hydrocarbon receptor in polycyclic aromatic hydrocarbon metabolism. , 1998, Cancer research.

[64]  P. O’Connell,et al.  Analysis of loss of heterozygosity in 399 premalignant breast lesions at 15 genetic loci. , 1998, Journal of the National Cancer Institute.

[65]  D. Wong,et al.  Inactivation of p16 in Human Mammary Epithelial Cells by CpG Island Methylation , 1998, Molecular and Cellular Biology.

[66]  D. Rao,et al.  Estimate of cancer incidence in India in 1991. , 1998, Indian journal of cancer.

[67]  V. Moudgil,et al.  Regulation of tumor suppressor proteins, p53 and retinoblastoma, by estrogen and antiestrogens in breast cancer cells , 1997, Oncogene.

[68]  S. Clark,et al.  Extensive DNA methylation spanning the Rb promoter in retinoblastoma tumors. , 1997, Cancer research.

[69]  M. Misra,et al.  Male breast cancer: A retrospective study from a regional cancer center in northern India , 1996, Journal of surgical oncology.

[70]  A. deFazio,et al.  Antiestrogen inhibition of cell cycle progression in breast cancer cells in associated with inhibition of cyclin-dependent kinase activity and decreased retinoblastoma protein phosphorylation. , 1995, Molecular endocrinology.

[71]  V. Kosma,et al.  Expression of c-myc proteins in breast cancer as related to established prognostic factors and survival. , 1995, Anticancer research.

[72]  Steven E. Bayer,et al.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.

[73]  J. Nesland,et al.  Genetic alterations of the tumour suppressor gene regions 3p, 11p, 13q, 17p, and 17q in human breast carcinomas , 1992, Genes, chromosomes & cancer.

[74]  D. Housman,et al.  Isolation, characterization, and expression of the murine Wilms' tumor gene (WT1) during kidney development , 1991, Molecular and cellular biology.

[75]  E. Harlow,et al.  The retinoblastoma protein is phosphorylated during specific phases of the cell cycle , 1989, Cell.

[76]  Wen-Hwa Lee,et al.  The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity , 1987, Nature.

[77]  C. W. Metz Duplication of Chromosome Parts as a Factor in Evolution , 1947, The American Naturalist.

[78]  I. Ruczinski,et al.  Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer , 2005, Breast Cancer Research and Treatment.

[79]  R. Elledge,et al.  The p53 tumor suppressor gene in breast cancer , 2004, Breast Cancer Research and Treatment.

[80]  J. Varley TP53, hChk2, and the Li-Fraumeni syndrome. , 2003, Methods in molecular biology.

[81]  S. Clifford,et al.  Von Hippel-Lindau disease: clinical and molecular perspectives. , 2001, Advances in cancer research.