Genetic testing for breast cancer (BC)

1 in 10
About 1 in 10 women are diagnosed with breast cancer during their lifetime. 5% to 10% of all women with breast cancer may have a germline mutation of BRCA1 and BRCA2 genes. Invasive ductal carcinoma is the most common type of breast cancer.
About two-thirds of breast cancers have estrogen and/or progesterone receptors called «hormone receptor-positive».
10–20%
About 10% to 20% of breast cancers are caused by alterations in the gene called human epidermal growth factor receptor 2 (HER2). These tumors are «HER2 positive» and have many copies of the HER2 gene (HER2 amplification) or overexpression of HER2 protein.
15–20%
Tumors that don’t have ER, PR, and HER2 expressions are called «triple-negative». Triple-negative breast cancer comprises about 15-20% of invasive breast cancers. It seems to be more common among younger women and women with a mutation in the BRCA1 gene.

What is genetic testing for breast cancer?

An NGS-based assay includes a panel of genes concurred with the clinical use of approved targeted drugs and drugs from prospective clinical trials for breast cancer.

Alterations in these genes lead to tumor development and are used as diagnostic, prognostic, and predictive cancer markers.

"First Genetics Lab" performs testing using the high‑throughput sequencing system named "F‑Genetics" and reagents for high‑throughput next generation sequencing (NGS) of genes associated with human cancer genesis, that are registered as medical devices (Federal Service for Surveillance in Healthcare: РЗН 2020/10521, РЗН 2022/16970)

The assay detects:

  • Hotspots (SNV/InDels)
  • Copy number variations (CNV)
  • Chromosomal aberrations (Gene fusions)
Consulting with a clinical geneticist and an oncologist to interpret test results and select cancer therapy is required
Hotspots (SNV/InDels)
8 genes
AKT1
ERBB2
ERBB3
FGFR2
FGFR3
KRAS
NRAS
PIK3CA
Copy number variations (CNV)
9 genes
CCND1
ERBB2
FGFR1
FGFR2
FGFR3
FGFR4
KRAS
MYC
PIK3CA
Chromosomal aberrations (Gene fusions)
7 genes
ERBB2
FGFR1
FGFR2
FGFR3
NTRK1
NTRK2
NTRK3

Indications for testing

For patients diagnosed with breast cancer for:

  • Therapy selection
  • Therapy monitoring and correction if the cancer recurrence occurs
  • Clinical trials enrollment

Targeted therapy

Targeted therapy is the type of treatment that targets specific molecules/proteins on the cancer cell surface or inside the cancer cells, blocking the growth and spread of cancer cells and limiting damage to healthy cells.

Not all tumors have the same targets. Genetic tests are used to find out what treatment is the most effective. Many clinical studies are underway.

Targeted therapy. Indications for drugs

TARGETED THERAPIES FOR RECURRENT UNRESECTABLE OR STAGE IV (M1) breast cancer
(NCCN Guidelines Version 3.2022)

Breast Cancer Subtype Biomarker FDA-Approved Agents
Любой HER2
Trastuzumab
Pertuzumab
Margetuximab
Ado-trastuzumab emtansine
Fam-trastuzumab deruxtecan-nxki
Any BRCA1/BRCA2 mutation
Olaparib
Talazoparib
HR-positive/HER2-negative PIK3CA activating mutation
Alpelisib + fulvestrant
TNBC PD-L1 expression
Pembrolizumab + chemotherapy (albumin-bound paclitaxel, paclitaxel, or gemcitabine and carboplatin)
Any NTRK fusion
Larotrectinib
Entrectinib
Any MSI-H/dMMR*
Pembrolizumab
Dostarlimab-gxly
Any TMB-H
(≥10 mut/Mb)**
Pembrolizumab

* microsatellite instability / deficiency of the DNA mismatch repair system

** high tumor mutation burden

NGS method

NGS can simultaneously read hundreds of millions of short sequences of DNA and detect all types of mutations, including

Hotspots (SNV/InDels)

Copy number variations (CNV)

Chromosomal aberrations (Gene fusions)

Advantages

  • High sensitivity and specificity of the method
  • Fast turnaround time
  • Simultaneous detection of all types of mutations, including chromosomal aberrations
  • Minimum requirements for sample quantity and quality
  • Shorter testing times

How to request the genetic testing for breast cancer

2
Fill out an informed consent form and submit an application

Download and fill out the informed consent form

3
Pay for the test via website
4
Prepare a H&E slide and corresponding FFPE sample
5
Call the courier 8 (800) 201 67 33

A courier will collect histological material and take it to the laboratory free of charge.

6
Receive the results by email

The results of the test can only be interpreted by a geneticist or oncologist.

Ask a question

First Genetics Laboratory

Specialists

Years of experience in genetics, laboratory diagnostics and bioinformatics

Confidentiality

All data is strictly confidential and cannot be passed on to third parties

Time frame

Results ready in a short time

Security

Extensive control at each stage of testing

No delivery fees

Free delivery of biomaterial across Russia

Charities

Email info@f-genetics.com for information