Associated Genetic Biomarkers

Overview

NCI Definition: A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. [1]

Biomarker-Directed Therapies

Significant Genes in Breast Carcinoma

ABL2 +

ACVR1B +

AKT1 +

AKT2 +

AKT3 +

ALK +

APC +

APH1A +

APOBEC3B +

ARAF +

ARID1A +

ASXL1 +

ATM +

ATR +

ATRX +

BACH1 +

BAP1 +

BARD1 +

BCL2 +

BCL6 +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

BTRC +

C11ORF30 +

CCND1 +

CCND2 +

CCND3 +

CCNE1 +

CCNE2 +

CDK12 +

CDK2 +

CDK4 +

CDK6 +

CDKN1A +

CDKN1B +

CDKN2A +

CHD4 +

CHEK1 +

CHEK2 +

CRKL +

CSF1R +

CYLD +

DICER1 +

DLL4 +

DNMT3A +

DVL1 +

EGFR +

EPCAM +

ERBB2 +

ERBB3 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

ESR1 +

EXO1 +

EZH2 +

FAN1 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FBXW7 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

FH +

FLT1 +

FLT3 +

FLT4 +

FZD1 +

FZD10 +

FZD2 +

FZD3 +

FZD4 +

FZD5 +

FZD6 +

FZD7 +

FZD8 +

FZD9 +

GATA3 +

HDAC1 +

HDAC2 +

HGF +

HRAS +

IDH1 +

IDH2 +

JAG1 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2C +

KMT2D +

KRAS +

LRP5 +

LRP6 +

MAGI2 +

MAML1 +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MCL1 +

MCPH1 +

MDM2 +

MDM4 +

MED12 +

MET +

MGMT +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MST1R +

MTOR +

MUTYH +

MYC +

NBN +

NCSTN +

NF1 +

NF2 +

NFE2L2 +

NOTCH1 +

NOTCH2 +

NOTCH3 +

NOTCH4 +

NPM1 +

NRAS +

NRG1 +

NSD1 +

NTRK1 +

NTRK2 +

NTRK3 +

NUTM1 +

PALB2 +

PARP1 +

PARP2 +

PCNA +

PDGFRA +

PDGFRB +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

POLD1 +

POLE +

PPP2R1A +

PPP2R2A +

PTCH1 +

PTEN +

PTGS2 +

PTPN11 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RB1 +

RET +

RFC1 +

RFC2 +

RFC3 +

RFC4 +

RFC5 +

RICTOR +

RNF43 +

ROS1 +

RPA1 +

RPA2 +

RPA3 +

RPA4 +

RPTOR +

RSPO1 +

RUNX1 +

SDHA +

SDHB +

SDHC +

SDHD +

SETD2 +

SLC29A1 +

SLX4 +

SMARCA2 +

SMARCA4 +

SMARCB1 +

SOX9 +

SRC +

SS18 +

SSBP1 +

SSX1 +

SSX2 +

SSX2B +

SSX4 +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TOP2A +

TP53 +

TSC1 +

TSC2 +

VEGFA +

VHL +

WNT1 +

WNT5A +

WRN +

XPO1 +

XRCC1 +

Disease Details

Synonyms
Metastatic Breast Carcinoma, Breast cancer, NOS, Carcinoma of the Breast, Carcinoma of Breast, Cancer, Breast, Mammary Carcinoma, Cancer of Breast, Cancer of the Breast, Breast Cancer, Metastatic Breast Cancer, Breast carcinoma (NOS)
Parent(s)
Malignant Breast Neoplasm
Children
Invasive Breast Carcinoma, Nipple Carcinoma, Sporadic Breast Carcinoma, Breast Adenocarcinoma, Sebaceous Breast Carcinoma, Malignant Breast Myoepithelioma, Scirrhous Breast Carcinoma, and Bilateral Breast Carcinoma

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.