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Breast and Ovarian Cancer NGS Panels 


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Approximately 5-10% of breast, and 10-15% of ovarian cancer cases are believed to be inheritable, mutations in particular genes like BRCA1 and BRCA2 increase the individual risk of developing breast or ovarian cancer. Mutations in BRCA1 and BRCA2 account for up to 90% of the total inheritable caused breast cancers (Gage et al. 2012, Marchina et al. 2010)

Other genes that are related to inheritable caused breast and ovarian cancer cases are genes associated with gastric cancer syndrome (CDH1), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), Peutz-Jeghers syndrome (STK11), and ataxia telangiectasia (ATM). 

There are more genes related or believed to be related to inheritable caused breast and ovarian cancer but mutations in these genes are only associated with a minority of these cancer cases.

On this page you will find an extensive list of NGS panels targeting different genes. Whereas ATM, BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, and TP53 are the most often targeted genes.

For more information on the targeted genes please contact the corresponding provider of the NGS panels. More general information on breast and ovarian cancer will be available on the cancer.net and NIH National Cancer Institute websites.


Breast (BRCA) and Ovarian Cancer (see also Ovarian Cancer) 

BRCA1/BRCA2 panel (NGS Panel)

Tested Genes: BRCA1/BRCA2

Source: Centogene

BRCAvantage Plus™

BRCAvantage Plus™ BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, PALB2. Looking beyond BRCA 1, BRCA2 for hereditary breast cancer risk. BRCAvantage Plus™ expanded testing for significant breast cancer susceptibility genes.
Source: Quest Diagnostics

Website

BRCA MASTR™ Dx

The BRCA MASTR™ Dx is a molecular diagnostic assay for the identification of mutations in the coding regions of theBRCA1 and BRCA2 genes in individuals with increased risk for breast, ovarian and/or related cancers. Multiplicom’s BRCA MASTR™ Dx is ready to use and offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 93 amplicons (289-430 bp) are included, for complete exon coverage of all coding sequences of the BRCA1 and BRCA2 genes.
Source: multiplicom

Website

BRCAPLUS

BRCAplus is a next generation sequencing panel of 6 genes associated with breast cancer (BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53). These six genes are associated with five hereditary cancer syndromes (hereditary breast and ovarian cancer or HBOC, hereditary diffuse gastric cancer, hereditary breast and pancreatic cancer, Cowden syndrome, and Li-Fraumeni syndrome) – all of which have published management guidelines.
Source: Ambry Genetics

Breast Cancer

Multi Gene Panel (37 Genes)
Targeted genes: ATM BLM BRCA1 BRCA2 BRIP1 BUB1B CDH1 CEP57 CHEK2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FH MLH1 MSH2 MSH6 NBN NF1 PALB2 PMS2 PTEN RAD51C RAD51D RECQL4 SDHB SDHC SDHD SLX4 STK11 TP53
Source: Medical Genetics Center

Breast Cancer and Ovarian Hereditary

Targeted genes: BRCA1, BRCA2, TP53, PTEN, ATM, BLM, PALB2, RAD51D, RAD51C, BRIP1, STK11, BARD1, PIK3CA, XRCC2, NBN, FANCC, SDHB, CHEK2, RECQL, CDH1, AKT1

Source: Mendelics

Breast Cancer High/Moderate Risk Panel

Tested genes ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53

Source: GeneDx

Breast Cancer High Risk Panel

Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
Tested genes BRCA1, BRCA2, CDH1, PTEN, STK11, TP53

Source: GeneDx

Breast Cancer High Risk Panel and PALB2

Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent
Tested genes BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

Source: GeneDx

Breast cancer (NGS panel for 10 genes)

Breast cancer (NGS panel for 10 genes)
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D, TP53
Source: CGC Genetics

Breast cancer (NGS panel for 18 genes)

Breast cancer (NGS panel for 18 genes)
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
Source: CGC Genetics

Breast Cancer Panel

Germline mutations in highly penetrable genes, mainly BRCA1 and BRCA2, have been found to be the direct causes of elevated risks of breast and ovarian cancers in women[4, 5].
This NGS (Next-Generation Sequencing) panel sequences 19 genes implicated in breast cancer, including BRCA1, BRCA2. Other genes included in the panel are TP53, PTEN, CDH1, STK11, ATM, AR, BARD1, BRIP1, CASP8, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51C, and TGFB1, which also cause an increased risk of both types of cancer.
Source: ApolloGen

Breast and Ovarian Cancer

Breast and ovarian cancers are most strongly associated with mutations of the BRCA1 and BRCA2 genes. Among women who have a clinically important BRCA gene mutation, the lifetime risk of developing breast and/or ovarian cancer can reach 80%. Cancer-predisposing mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner. The prognosis for breast cancer survival depends upon the stage at which breast cancer is diagnosed.
Source: Asper Biotech
Asper Biotech offers two panels for BRCA1 & BRCA2 and for APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGFR2, KRAS, MAP3K1, MEN1, MLH1, MLH3, MSH2, MSH3, MSH6, MRE11A, MUTYH, NBN, PALB2, PMS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, STK11, TGFB1, TP53 sequencing.

Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel

The EGL Breast and Ovarian Cancer Panel includes genes involved in hereditary cancer predisposition syndromes that have an increased risk for breast and/or ovarian cancer. They include hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2), hereditary diffuse gastric cancer syndrome (CDH1), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), Peutz-Jeghers syndrome (STK11), ataxia telangiectasia (ATM), Lynch syndrome (MLH1, MSH2, MSH6, PMS2, and EPCAM), and MUTYH-associated polyposis syndrome (MUTYH).
Targeted Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53, XRCC2
Source: Emory Genetics Laboratory

Breast and Ovarian Hereditary Cancer Panel

Genes tested by Sequencing: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 common mutations, MEN1,MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Genes tested by Deletion/Duplication: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 common mutations, EPCAM deletions only, MEN1,MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
Source: Arup Laboratories

BREASTNEXT

Ambry utilizes next generation sequencing to offer a comprehensive hereditary breast cancer panel. Genes on this panel include ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, and TP53. Full gene sequencing and gross deletion/duplication analysis is performed for all 17 genes. Specific Site Analysis is available for individual gene mutations identified in a family.
Source: Ambry Genetics

BREASTON-Extended and OVARIGEN

Familial and hereditary breast and ovarian cancer tests available at PentaCore Laboratory!
As for prevention, it is really important to identify those persons who are currently not ill but have a family record of multiple breast and ovarian cancer cases. These persons may carry genetic variations that could cause these diseases. Currently, 20-30% of all the diagnosed breast cancer cases could be the consequence of hereditary genetic variations (mutations). In the background of these cases, there are mutations with big penetration capacity, most commonly mutations associated with the BRCA1 and BRCA2 genes.
The genes analyzed include: BRCA1, BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51, STK11, TP53, KRAS.

Source: Pentacorelab

Breast Ovarian Cancer NGS Panel

Targeted Genes: APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CTNNB1, EPCAM, FANCC, HOXB13, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PALLD, PMS2, PTEN, RAD50, RAD51, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL, XRCC2, XRCC3
Source: Fulgent Diagnostics

Breast/Ovarian Cancer Panel

The OncogeneDx Breast and Ovarian Cancer panel includes analysis of the BRCA1 and BRCA2 genes as well as 19 other genes affecting breast and/or ovarian cancer risk.Tested genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2

Source: GeneDx

Breast ovarian cancer panel (NGS Panel)

Tested genes: CDH1, PTEN, STK11, TP53

Source: Centogene

Breast ovarian cancer panel PLUS (NGS Panel)

Tested genes: ATM, BARD1, BRIP1, CHEK2, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PMS2, RAD50, RAD51C, RAD51D, XRCC2

Source: Centogene

BreastSeq

BreastSeq is an ultrasequencing panel (NGS) which analyzes simultaneously 19 genes and 76 SNPs associated with susceptibility to hereditary breast cancer.
Some of these genes are also associated with an increased risk of other cancers such as: PALB2 with pancreatic cancer, RAD50 with ovarian cancer or TP53 with different sarcomas. In addition, we have included the detection of 76 SNPs (Single Nucleotide Polymorphism) associated with breast cancer in recent studies of GWAS (Genome-wide association study).

Source: ACgen

BreastTrue™ High Risk Panel

BreastTrue™ High Risk Panel is a next-generation sequencing test with deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2 and PALB2.
Targeted genes:
BRCA1
BRCA2
CDH1
PALB2
PTEN
STK11
TP53
Source: Pathway Genomics

CentoBreast (hereditary breast cancer) panel

Tested genes BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C

Source: Centogene

HEREDITARY BREAST AND OVARIAN CANCER BRCA1/2 SEQUENCING PANEL

The majority of breast and ovarian cancers occur sporadically. However, approximately 5-10% of breast, and 10-15% of ovarian cancer cases are due to mutations in specific genes, particularly BRCA1 and BRCA2, that significantly increase an individual's risk of developing these cancers (Marchina et al. 2010). In addition, HBOC syndrome may also be the result of of lower penetrance mutations in other genes, which confer a moderate risk (Berliner et al. 2013).
This is a predictive test and it only provides information regarding the likelihood of breast and/or ovarian cancer.
Source: Prevention Genetics

This kit sequences the BRCA1 and BRCA2 genes

HEREDITARY BREAST AND OVARIAN CANCER SYNDROME - HBOC EXPANDED NEXTGEN SEQUENCING (NGS) AND DELETION/DUPLICATION PANEL

This HBOC High Risk NGS panel analyzes 20 genes, in which pathogenic variants have been associated with low to moderate to high risks of developing hereditary breast and/or ovarian cancer.
Source: Prevention Genetics

Hereditary breast–ovarian cancer syndrome panel

Thanks to massive sequencing technology and high-resolution genomic platforms, Bioarray offers a NGS panel, with which it is possible to detect mutations in the BRCA1 and BRCA2 genes, allowing early detection of hereditary cancer families, in a simple blood test.

Source: BA Bioarray

HBOC High Risk NGS panel

This HBOC High Risk NGS panel analyzes 8 genes, where pathogenic variants in these genes have been associated with a high risk of developing hereditary breast and/or ovarian cancer.
Source: Prevention Genetics

Human Breast Cancer GeneRead DNAseq Targeted Panel

The Human Breast Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 44 genes most commonly mutated in human breast cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis.
Source: Qiagen

Invitae Breast Cancer Guidelines-Based Panel

The Invitae Breast Cancer Guidelines-Based Panel analyzes nine well-established genes that are associated with hereditary breast cancer and an increased risk of other cancers. This panel differs from the Invitae Breast Cancer High-Risk Panel by the addition of two genes: ATM and CHEK2. The addition of ATM and CHEK2 completes the list of genes for which the National Comprehensive Cancer Network (NCCN) currently recommends enhanced breast cancer screening (i.e., breast MRI) and possible preventive measures.
Source: Invitae

Invitae Breast and Gyn Cancers Guidelines-Based Panel

The Invitae Breast and Gyn Cancers Guidelines-Based Panel analyzes 14 genes that are associated with a significantly increased lifetime risk of hereditary breast, ovarian, uterine, fallopian tube, and peritoneal cancer. Some genes on this panel are also associated with an increased risk of other cancer types. All 14 genes on this panel have published management guidelines.
Source: Invitae

Invitae Breast and Gyn Cancers Panel

The Invitae Breast and Gyn Cancers Panel analyzes genes that are associated with hereditary breast, ovarian, and uterine cancers. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for women’s breast and gynecologic cancers.
The primary panel includes 23 genes that are associated with hereditary breast, ovarian, and uterine cancers. In addition to the primary panel, clinicians can also choose to include 12 genes that have limited evidence of association with these cancer types. At this time, the association of these 12 genes with these cancers remains uncertain. However, some clinicians may wish to include genes that may prove to be clinically significant in the future.
Source: Invitae

Invitae Breast Cancer High-Risk Panel

The Invitae Breast Cancer High-Risk Panel includes seven well-established genes that are associated with a significantly increased risk of developing breast cancer. All genes on this panel have published medical management guidelines and are associated with defined hereditary cancer syndromes.
Source: Invitae

Pathway Genomics’ BRCATrueTM

Pathway Genomics’ BRCATrueTM is a next-generation sequencing test that searches for mutations in BRCA1 and BRCA2 genes. Having mutations in either the BRCA1 or the BRCA2 gene significantly increases a patient’s risk for breast, ovarian and other types of cancer2.
Source: Pathway

Website

OvaNext

OvaNext is a next generation sequencing (NGS) panel that simultaneously analyzes 24 genes associated with increased risk for breast, ovarian, and/or uterine cancers.
Source: Ambry Genetics

Website


Ovarian Cancer (see also Breast Cancer) 

GYNPLUS

GYNplus is a next generation sequencing panel of 9 genes associated with high risk for ovarian and/or uterine cancer (BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, and TP53). These nine genes are associated with four hereditary cancer syndromes (Hereditary Breast and Ovarian Cancer (HBOC), Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome) all of which have published management guidelines.
Source: Ambry Genetics

Human Ovarian Cancer Panel

The Human Ovarian Cancer GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of the 32 genes most commonly mutated in human ovarian cancer samples. Mutations in these oncogenes and tumor suppressor genes are often relevant for tumor classification, and warrant extensive investigation to enhance the understanding of carcinogenesis. Ovarian cancer has the highest mortality rate of all gynecological cancers, partly because it is often discovered at a late stage of progression.
Source: Qiagen

OVANEXT

Ambry utilizes NGS to offer a comprehensive hereditary gynecologic cancer panel. Genes on this panel include: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53. Full gene sequencing is performed for 23 of the genes (excluding EPCAM). Gross deletion/duplication analysis is performed for all 24 genes.
Source: Ambryo Genetics

Ovarian Cancer

Multi Gene Panel (27 Genes)
Targeted genes: ATM BRCA1 BRCA2 BRIP1 BUB1B CEP57 CHEK2 DICER1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL MLH1 MSH2 MSH6 NBN PALB2 PMS2 RAD51C RAD51D SLX4 TP53
Source: Medical Genetics Center

Ovarian cancer panel, targeted

Tested genes BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, STK11, TP53

Source: Centogene

OvaSeq

Ovaeq is an ultrasequencing panel (NGS) which analyzes simultaneously 24 genes and 89 SNPs associated with susceptibility to hereditary ovarian cancer, breast and uterus.
Currently breast and ovarian cancer could be explained by inherited mutations in high penetrance genes BRCA1 and BRCA2 in 10-18% of cases. However, in recent years other genes have been identified by their relation to breast and ovarian cancer in families. Other genes associated with Lynch syndrome could significantly increase the risk of uterine cancer and ovarian cancer, while others such as PTEN could increase the risk of breast and uterine cancer.

Source: ACgen

SureSeq Ovarian Cancer Panel

The SureSeq Ovarian Cancer Panel has been developed with leading cancer experts and covers all coding exons of seven genes . The panel allows detection of known and novel variants in tumour suppressor genes as well as genes involved in homologous repair to advance research into ovarian cancer treatment and for use in clinical trials to help the development of new targeted therapies.
Source: Oxford Gene Technology

Website


Gage M, Wattendorf D, Henry LR (2012) Translational advances regarding hereditary breast cancer syndromes |PubMed|
Marchina E, Fontana MG, Speziani M, Salvi A, Ricca G, Di Lorenzo D, Gervasi M, Caimi L, Barlati S (2010) BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management |PubMed|


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