KEGG   DISEASE: H00031Help
Entry
H00031                      Disease                                

Name
Breast cancer
Description
Breast cancer remains the most common malignancy in women worldwide and is the leading cause of cancer-related mortality. More than 1-2 million cases are diagnosed every year, affecting 10-12% of the female population and accounting for 500 000 deaths per year worldwide. Approximately 5-10% are thought to be inherited. The hereditary breast cancer syndrome includes genetic alterations in various susceptibility genes such as p53, PTEN, BRCA1, and BRCA2. Sporadic breast cancers result from a serial stepwise accumulation of acquired and uncorrected mutations in somatic genes, without any germline mutation playing a role. Oncogenes that have been reported to play an early role in sporadic breast cancer are MYC, CCND1 (Cyclin D1) and ERBB2 (HER2/neu). In sporadic breast cancer, mutational inactivation of BRCA1/2 is rare. However, non-mutational functional suppression could result from various mechanisms, such as hypermethylation of the BRCA1 promoter.
Category
Cancer
BRITE hierarchy
Pathway
MicroRNAs in cancer
Gene
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 (germline mutation) [HSA:675] [KO:K08775]
p53 (mutation) [HSA:7157] [KO:K04451]
RB1 (underexpression) [HSA:5925] [KO:K06618]
PTEN (germline mutation) [HSA:5728] [KO:K01110]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDH1 (mutation) [HSA:999] [KO:K05689]
CCND1 (overexpression) [HSA:595] [KO:K04503]
Carcinogen
Estrogen-progestogen menopausal therapy (combined)
Estrogen-progestogen oral contraceptives (combined)
Estrogen therapy, postmenopausal
Oral contraceptives, sequential
Radium-224 and its decay products
X- and gamma-radiation
Marker
CEA [HSA:1048]
MUC1(CA15.3) [HSA:4582]
MUC1(CA27.29) [HSA:4582]
Cytokeratin 8 [HSA:3856]
Cytokeratin 18 [HSA:3875]
Cytokeratin 19 [HSA:3880]
ERBB2 [HSA:2064]
Drug
Doxorubicin [DG:DG00696]
Epirubicin [DG:DG00698]
5-FU [DG:DG00687]
Cyclophosphamide [DG:DG00675]
Docetaxel [DG:DG00694]
Paclitaxel [DG:DG01430]
Methotrexate [DG:DG00681]
Trastuzumab [DG:DG01358]
Tamoxifen [DG:DG00734]
Anastrozole [DR:D00960]
Letrozole [DR:D00964]
Exemestane [DR:D00963]
Comment
ICD-O: 8500/3, Tumor type: Invasive ductal carcinoma, not otherwise specified
ICD-O: 8520/3, Tumor type: Invasive lobular carcinoma
Other DBs
ICD-10: 
MeSH: 
Reference
PMID:10448115 (gene, tumor type)
  Authors
Ingvarsson S.
  Title
Molecular genetics of breast cancer progression.
  Journal
Semin Cancer Biol 9:277-88 (1999)
Reference
PMID:15351094 (gene)
  Authors
Kenemans P, Verstraeten RA, Verheijen RH.
  Title
Oncogenic pathways in hereditary and sporadic breast cancer.
  Journal
Maturitas 49:34-43 (2004)
Reference
PMID:17464097 (carcinogen)
  Authors
Ito K.
  Title
Hormone replacement therapy and cancers: the biological roles of estrogen and progestin in tumorigenesis are different between the endometrium and breast.
  Journal
Tohoku J Exp Med 212:1-12 (2007)
Reference
PMID:17135036 (carcinogen)
  Authors
Schmidt JW, Wollner D, Curcio J, Riedlinger J, Kim LS.
  Title
Hormone replacement therapy in menopausal women: Past problems and future possibilities.
  Journal
Gynecol Endocrinol 22:564-77 (2006)
Reference
PMID:15192054 (carcinogen)
  Authors
.
  Title
Hormones and breast cancer.
  Journal
Hum Reprod Update 10:281-93 (2004)
Reference
PMID:14534338 (carcinogen)
  Authors
Petitti DB.
  Title
Clinical practice. Combination estrogen-progestin oral contraceptives.
  Journal
N Engl J Med 349:1443-50 (2003)
Reference
PMID:16278609 (carcinogen)
  Authors
Shah NR, Borenstein J, Dubois RW.
  Title
Postmenopausal hormone therapy and breast cancer: a systematic review  and meta-analysis.
  Journal
Menopause 12:668-78 (2005)
Reference
PMID:10564925 (carcinogen)
  Authors
Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
  Title
Malignancies in patients treated with high doses of radium-224.
  Journal
Radiat Res 152:S3-7 (1999)
Reference
PMID:15070562 (carcinogen)
  Authors
Berrington de Gonzalez A, Darby S.
  Title
Risk of cancer from diagnostic X-rays: estimates for the UK and 14 other countries.
  Journal
Lancet 363:345-51 (2004)
Reference
PMID:17368950 (marker)
  Authors
Levenson VV.
  Title
Biomarkers for early detection of breast cancer: what, when, and where?
  Journal
Biochim Biophys Acta 1770:847-56 (2007)
Reference
PMID:16410341 (marker)
  Authors
Duffy MJ.
  Title
Serum tumor markers in breast cancer: are they of clinical value?
  Journal
Clin Chem 52:345-51 (2006)
Reference
PMID:15127239 (marker)
  Authors
Seregni E, Coli A, Mazzucca N.
  Title
Circulating tumour markers in breast cancer.
  Journal
Eur J Nucl Med Mol Imaging 31 Suppl 1:S15-22 (2004)
Reference
(drug)
  Authors
McPhee SJ, Papadakis MA, Tierney LM (ed).
  Title
Current Medical Diagnosis & Treatment 2007, Forty-Sixth Edition
  Journal
The McGraw-Hill Companies, Inc. (2007)

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