Molecular Pathology of
Breast Cancer
Breast Cancer
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Molecular Pathology of Breast Cancer |
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| Region | Incidence Overall | Incidence Males | Incidence Females | Deaths Overall | Deaths Males | Deaths Females |
|---|---|---|---|---|---|---|
| USA | 209060 | 1970 | 207090 | 40230 | 390 | 39840 |
| Affected Protein | Pathway | Sub-Type | Ethnicity | Stage | Frequency (%) | Gene Amplification | Activating Mutation | Inactivating Mutation | Deletion | Promoter Hypermethylation | Comment | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAM12 | TGF-beta Signaling |
10% | missense mutation | |||||||||
| AKT1 | PI3-Kinase Signaling |
8% | mutation in PH domain (E17K) activating kinase activity | |||||||||
| AKT2 | PI3-Kinase Signaling |
3% | ||||||||||
| APC2 | 8% | |||||||||||
| ATP8B1 | 13% | missense mutation | ||||||||||
| BRCA1 | DNA-Repair |
Ashkenazi jewish | 20% | 185delAG | ||||||||
| BRCA1 | DNA-Repair |
9% | ||||||||||
| BRCA1 | DNA-Repair |
ductal carcinoma in situ (DCIS) | 0.8% | |||||||||
| BRCA1 | DNA-Repair |
invasive breast cancer (IBC) | 0.4-2.6% | |||||||||
| BRCA2 | DNA-Repair |
Icelandic | 24% | 999del5 | ||||||||
| BRCA2 | DNA-Repair |
ductal carcinoma in situ (DCIS) | 2.4% | |||||||||
| BRCA2 | DNA-Repair |
invasive breast cancer (IBC) | 1.5% | |||||||||
| CADM1 (TSLC1) | Cell-cell adhesion |
primary breast carcinoma | 86% | downregulation of protein expression | ||||||||
| CADM1 (TSLC1) | Cell-cell adhesion |
primary breast carcinoma | 48% | |||||||||
| CUBN (cubilin) | 15% | |||||||||||
| EPB41L3 (erythrocyte membrane protein band 4.1-lik | cytoskeleton organization |
primary breast carcinoma | 47% | down regulation of protein expression | ||||||||
| EPB41L3 (erythrocyte membrane protein band 4.1-lik | cytoskeleton organization |
primary breast carcinoma | 27% | |||||||||
| ErbB-2 (Her2/neu) | Receptor Tyrosine Kinase Signaling |
25% | Over-expression | |||||||||
| ErbB-2 (Her2/neu) | Receptor Tyrosine Kinase Signaling |
DCIS | 40% | |||||||||
| GLI1 (glioma-associated oncogene homolog 1) | 15% | |||||||||||
| GSTP1 (glutathione S-transferase pi 1) | Glutathione metabolism |
37% | ||||||||||
| MDM2 | p53 Tumor Suppressor Pathway |
breast carcinoma | 6% | |||||||||
| MRE11A | DNA-Repair |
8% | missence | |||||||||
| obscurin (OBSCN) | 18% | missence | ||||||||||
| p53 | p53 Tumor Suppressor Pathway |
55% | ||||||||||
| p53 | p53 Tumor Suppressor Pathway |
DCIS | 20% | |||||||||
| Pi3-kinase | PI3-Kinase Signaling |
15 - 40% | ||||||||||
| PTEN | PI3-Kinase Signaling |
5% | both alleles mutation | |||||||||
| PTEN | PI3-Kinase Signaling |
40-50% | mono-allelic loss | |||||||||
| PTEN | PI3-Kinase Signaling |
invasive breast cancer | high grade | 34 - 48% | correlates with loss or reduction of protein expression | |||||||
| RUNX3 (runt-related transcription factor 3) | Transcriptional regulation |
DCIS and IDC | 74% | protein inactivation | ||||||||
| SERPINB5 (maspin) | 57% | |||||||||||
| SFRP1 (secreted frizzled related protein 1) | WNT Signaling |
69% | ||||||||||
| SPTAN1 (spectrin, alpha, non-erythrocytic 1) | 16% | missence | ||||||||||
| Stratifin (14-3-3 sigma) | Cell Cycle Regulation |
IDC and DCIS | 83 - 96% |
| See Clinical Trials in in the TTC Database |
| CANCER.GOV PDQ® - Standard Treatments for Breast Cancer |