Definition: Mammary malignant epithelial tumors.
Classification
mammary adenoid cystic carcinoma
mammary adenosquamous carcinoma, low grade
mammary apocrine carcinoma
mammary cribriform carcinoma
mammary infiltrating ductal carcinoma
mammary glycogen rich clear cell carcinoma
mammary histiocytoid carcinoma
mammary infiltrating lobular carcinoma
mammary inflammatory carcinoma
mammary lipid rich carcinoma
mammary low grade adenosquamous carcinoma
mammary medullary carcinoma
mammary metaplastic carcinoma
mammary invasive micropapillary carcinoma
mammary mucinous carcinoma
mammary neuroendocrine carcinoma, low grade
mammary neuroendocrine carcinoma, NOS
mammary neuroendocrine carcinoma, high grade
mammary oncocytic carcinoma
mammary carcinoma with osteoclast-like giant cells
mammary Paget disease
mammary secretory sarcinoma (secretory breast carcinoma)
mammary signet ring carcinoma (variant of lobular)
mammary small cell carcinoma
mammary tubular carcinoma
mammary tubulolobular carcinoma
Susceptibility
BRCA1
BRCA2
FGFR2
TNRC9
MAP3K1
LSP1
10q23.32-q25.3 locus (17171685)
Molecular biology
allelotypes
expression profiling
proteomics: 11721633
Comparative genomic hybridization (16457699)
CGH revealed approximately 20 regions of recurrent increased DNA sequence copy number in breast tumors. These regions are predicted to encode dominantly acting genes that may play a role in tumor progression or response to therapy.
Amplified regions
1q32.1 amplification (66%) (16457699)
8p12 amplification
8q24.3 amplification (79%): MYC (MIM.190080) (16457699)
11q13 amplification: CCND1 (MIM.168461) and EMS1 (MIM.164765)
12q13 amplification
16p13.3 amplification (57%)
17q12 amplification: ERBB2 (MIM.164870)
20q13 amplification (18%)
In breast cancer, ERBB2, CCND1 and EMS1 amplification and overexpression are associated with decreased life expectancy, whereas MYC amplification has been associated with lymph node involvement, advanced stage, and an increased rate of relapse.
20q13 gains in greater than 25% of cancers of the ovary, colon, head and neck, brain, and pancreas.
Amplified genes
HER2 amplification
MDM2 amplification
CCND1 amplification
ESR1 amplification
LOH
1p
4p
5q
8p12-p23
11q
13q > RB1 (26%) (16457699)
14q
16q
17p
17q
Epigenetics
hypermethylation and hypomethylation of CpG islands (16575877)
Video
Metastatic breast carcinoma by Washington Deceit
breast cancer cells in culture
Reviews
The role of molecular analysis in breast cancer. Geyer FC, Marchio C, Reis-Filho JS. Pathology. 2009 Jan;41(1):77-88. PMID: 19089743
Vargo-Gogola T, Rosen JM. Modelling breast cancer: one size does not fit all. Nat Rev Cancer. 2007 Sep;7(9):659-72. PMID: 17721431
Stingl J, Caldas C. Molecular heterogeneity of breast carcinomas and the cancer stem cell hypothesis. Nat Rev Cancer. 2007 Oct;7(10):791-9. PMID: 17851544
Weigelt B, Peterse JL, van ’t Veer LJ. Breast cancer metastasis: markers and models. Nat Rev Cancer. 2005 Aug;5(8):591-602. PMID: 16056258
Hunter DJ, Riboli E, Haiman CA, Albanes D, et al.; National Cancer Institute Breast and Prostate Cancer Cohort Consortium. A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. Nat Rev Cancer. 2005 Dec;5(12):977-85. PMID: 16341085
O’Connell P. Genetic and cytogenetic analyses of breast cancer yield different perspectives of a complex disease. Breast Cancer Res Treat. 2003 Apr;78(3):347-57. PMID: 12755493
Albertson DG. Profiling breast cancer by array CGH. Breast Cancer Res Treat. 2003 Apr;78(3):289-98. PMID: 12755488
Nathanson KL, Weber BL. "Other" breast cancer susceptibility genes: searching for more holy grail. Hum Mol Genet. 2001 Apr;10(7):715-20. PMID: 11257104
Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet. 2001 Apr;10(7):705-13. PMID: 11257103
Barcellos-Hoff MH. Three down and counting: the transformation of human mammary cells from normal to malignant in three steps. Trends Mol Med. 2001 Apr;7(4):142-3. PMID: 11286925
Stratton MR. Recent advances in understanding of genetic susceptibility to breast cancer. Hum Mol Genet. 1996;5 Spec No:1515-9. PMID: 8875258
References
Overexpression of cell division cycle 7 homolog is associated with gene amplification frequency in breast cancer. Choschzick M, Lebeau A, Marx AH, Tharun L, Terracciano L, Heilenkötter U, Jaenicke F, Bokemeyer C, Simon R, Sauter G, Schwarz J. Hum Pathol. 2009 Nov 5. PMID: 19896697 (CDC7L1)
Expression profiling technology: its contribution to our understanding of breast cancer. Rakha EA, El-Sayed ME, Reis-Filho JS, Ellis IO. Histopathology. 2008 Jan;52(1):67-81. PMID: 18171418
Bergamaschi A, Kim YH, Wang P, Sorlie T, Hernandez-Boussard T, Lonning PE, Tibshirani R, Borresen-Dale AL, Pollack JR. Distinct patterns of DNA copy number alteration are associated with different clinicopathological features and gene-expression subtypes of breast cancer. Genes Chromosomes Cancer. 2006 Nov;45(11):1033-40. PMID: 16897746
Naylor TL, Greshock J, Wang Y, Colligon T, Yu QC, Clemmer V, Zaks TZ, Weber BL. High resolution genomic analysis of sporadic breast cancer using array-based comparative genomic hybridization. Breast Cancer Res. 2005;7(6):R1186-98. PMID: 16457699
Piotrowski A, Benetkiewicz M, Menzel U, de Stahl TD, Mantripragada K, Grigelionis G, Buckley PG, Jankowski M, Hoffman J, Bala D, Srutek E, Laskowski R, Zegarski W, Dumanski JP. Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer. Genes Chromosomes Cancer. 2006 Jul;45(7):656-67. PMID: 16575877
