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 (somatic), PIK3CA Mutation, TP53 Mutation (somatic), TP53 Mutation (germline), and TP53 Mutation 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 +

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 +

SMO +

SOX9 +

SRC +

SSBP1 +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TOP2A +

TP53 +

TSC1 +

TSC2 +

VEGFA +

VHL +

WNT1 +

WNT5A +

XPO1 +

XRCC1 +

Disease Details

Synonyms
Cancer of the Breast, Carcinoma of Breast, Cancer, Breast, Carcinoma of the Breast, Breast cancer, NOS, Cancer of Breast, Breast Cancer, Mammary Carcinoma
Parent(s)
Malignant Breast Neoplasm
Children
Cribriform Carcinoma, Invasive Breast Carcinoma, Sebaceous Breast Carcinoma, Breast Adenocarcinoma, Bilateral Breast Carcinoma, Malignant Breast Myoepithelioma, Adenoid Cystic Breast Carcinoma, Sporadic Breast Carcinoma, Scirrhous Breast Carcinoma, and Nipple 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 6. 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.