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]

Breast carcinomas most frequently harbor alterations in PIK3CA, TP53, ERBB2, GATA3, and CDH1 [2].

Most Commonly Altered Genes in Breast Carcinoma

PIK3CA Mutation, TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, and PIK3CA H1047R are the most common alterations in breast carcinoma [2].

Top Alterations in Breast Carcinoma

Biomarker-Directed Therapies

Significant Genes in Breast Carcinoma

ABL2 +

ACVR1B +

AKT1 +

AKT2 +

AKT3 +

ALK +

APC +

APH1A +

APOBEC3B +

ARAF +

ARID1A +

ASXL1 +

ATM +

ATR +

ATRX +

BARD1 +

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 +

IRS2 +

JAG1 +

KDM6A +

KDR +

KEAP1 +

KIT +

KMT2D +

KRAS +

LRP5 +

LRP6 +

MAGI2 +

MAML1 +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MCPH1 +

MDM2 +

MDM4 +

MED12 +

MET +

MGMT +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MST1R +

MTOR +

MUTYH +

MYC +

NBN +

NCSTN +

NF1 +

NF2 +

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 +

SMARCA4 +

SMARCB1 +

SMO +

SOX9 +

SRC +

SSBP1 +

STAG2 +