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 TP53, PIK3CA, ERBB2, GATA3, and CDH1 [2].

Most Commonly Altered Genes in Breast Carcinoma

PIK3CA Mutation (somatic), PIK3CA Mutation, TP53 Mutation, TP53 c.217-c.1178 Missense, and TP53 c.142-c.212 Missense 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 +

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 +

CYLD +

DICER1 +

DLL4 +

DNMT3A +

DVL1 +

EGFR +

ERBB2 +

ERBB3 +

ESR1 +

EZH2 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FBXW7 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

FH +

FLT3 +

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 +

MTOR +

MUTYH +

MYC +

NBN +

NCSTN +

NF1 +

NF2 +

NOTCH1 +

NOTCH2 +

NOTCH3 +

NOTCH4 +

NPM1 +

NRAS +

NSD1 +

NTRK1 +

NUTM1 +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PIK3C2B +

PIK3CA +

PIK3CB +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

PPP2R1A +

PPP2R2A +

PTCH1 +

PTEN +

PTGS2 +

PTPN11 +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RB1 +

RET +

RICTOR +

RNF43 +

RPTOR +

RSPO1 +

RUNX1 +

SDHA +

SDHB +

SDHC +

SDHD +

SETD2 +

SLC29A1 +

SLX4 +

SMARCA4 +

SMO +

SOX9 +

SRC +

STAG2 +

STK11 +

TAF1 +

TBX3 +

TET2 +

TOP2A +

TP53 +

TSC1 +

TSC2 +

VEGFA +

WNT1 +

WNT5A +

XPO1 +

XRCC1 +

Disease Details

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

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 4. 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.