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Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard

Homologous recombination repair (HRR) is an important way to repair DNA double-strand damage. HRR is a complex signaling pathway involving multiple steps, among which the key proteins are BRCA1 and BRCA2. According to the report of ARIEL3, the pathway mainly involves 28 genes, including BRCA1, BRCA2, ATM, ATR, BARD1, BLM, BRIP1, CDK12, CHEK1, CHEK2, etc. Many mutations in these genes can cause abnormal DNA repair, which is closely related to the occurrence, diagnosis and treatment of tumors.

Model:
CBP90044
Catalog No.:
CBP90044

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Product Overview

Homologous Recombination Repair (HRR) is critical for fixing DNA double-strand breaks, and defects in HRR genes (e.g., BRCA1, BRCA2, ATM) are closely linked to tumor development and response to targeted therapies. The Panel-Ref® HRR 28-Gene Cocktail Reference Standard (CBP90044) is a highly characterized QC material designed to simulate real clinical tumor samples. It contains the full human genome with tumor-like chromosomal and copy number abnormalities, covering 28 key HRR genes and over 250 mutations. These mutations span diverse types—including synonymous, missense, deletions, insertions, splicing variants, and copy number variations (CNVs)—with clinical annotations ranging from Benign and Likely Benign to Pathogenic.

Core Advantages

Clinical Relevance & Realism

Unlike generic standards, this product mimics the genetic background of actual tumors (e.g., ploidy and copy number abnormalities), ensuring that your HRR detection method validation reflects real-world performance.

Comprehensive Mutation Coverage

With 28 HRR genes and >250 mutations across all clinical significance categories, it supports multi-dimensional testing of assay sensitivity (for low-frequency mutations) and specificity (for distinguishing benign vs. pathogenic variants).

Rigorous Multi-Platform Validation

Calibrated via two gold-standard methods (1000x WES and ddPCR), the standard delivers accurate, reproducible data for validating kits, optimizing workflows, and daily QC.

Flexibility for Diverse Use Cases

Whether verifying the detection limit of a new NGS panel or monitoring batch-to-batch consistency of HRR tests, its wide mutation frequency range adapts to various experimental needs.

Service Process

Consultation & Requirement Alignment

Our team first discusses your specific goals (e.g., validating a BRCA1 assay, testing CNV detection) and experimental platform (ddPCR) to confirm the standard’s suitability and provide usage recommendations.

Secure Delivery & Documentation

We ship the standard with 2-8 ℃ packaging to maintain stability. Each order includes a detailed Certificate of Analysis (COA) with mutation loci, frequencies, and validation data.

Post-Delivery Technical Support

Our scientists offer guidance on sample preparation (e.g., dilution ratios), experimental setup, and data interpretation to resolve issues during validation or QC.

Long-Term QC Support

We provide batch stability updates and follow-ups to ensure the standard remains reliable for your ongoing HRR testing programs.

Why Choose This HRR Standard?

This reference material is essential for oncology labs and IVD developers aiming to optimize HRR detection methods, ensure consistent test performance, and meet research-grade quality requirements. By aligning with clinical sample characteristics and rigorous validation, it reduces the gap between lab testing and real patient care. Contact us to learn how it can enhance your tumor DNA repair testing workflows.

Simulated clinical samples:	There is ploidy abnormality and copy number abnormality
HRR-related genes：	28个:BRCA1,BRCA2,ATM,ATR,BARD1,BLM,BRIP1,CDK12, CHEK1,CHEK2,FANCA,FANCC,FANCD2,FANCF,FANCI, FANCL,FANCM,MRE11A,NBN,PALB2,PPP2R2A,RAD50, RAD51B,RAD51C,RAD51D,RAD52,RAD54L和RPA1
Number of mutations:	28 genes with >250 mutations
Mutation Type:	Synonymous, missense, deletion, insertion, splicing variation, copy number variation, etc. (methylation has not been tested yet)
Clinical Notes:	Benign,Likely Benign,Uncertain Significance,Likely Pathogenic,Pathogenic
Mutation range:	0-100%
Product form:	gDNA is in stock, ctDNA and FFPE are under development
Verification method:	1.1000x WES; 2.3500x Panel; 3.DdPCR(Partial sites)

Name	Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard
Cat. No.	CBP90044
Format	Genomic DNA
Size	1ug/vial * 1 vial
Intended Use	Research Use Only
Buffer	Tris-EDTA
Storage Conditions	2-8°C
Expiry	36 months from the date of manufacture

Gene	Protein Change	CDS Change	AF-NGS	AF-ddPCR	Clinical significance
ATM	p.Q628fs	c.1880dupT	22.40%	21.70%	Pathogenic
ATM	p.N1983S	c.5948A>G	99.93%	N/A	Benign
ATM	p.A2843V	c.8528C>T	19.51%	N/A	Likely Pathogenic
ATR	p.R2425Q	c.7274G>A	20.82%	N/A	Benign
ATR	N/A	c.6552+5A>G	5.54%	N/A	Uncertain Significance
ATR	N/A	c.4153-11_4153-10delTT	17.00%	18.90%	Uncertain Significance
ATR	p.I774Yfs*5	c.2320delA	24.88%	N/A	Uncertain Significance
ATR	p.L711F	c.2131C>T	3.55%	N/A	Likely Benign
ATR	p.D564=	c.1692T>C	19.36%	N/A	Likely Benign
BARD1	p.A724T	c.2170G>A	11.25%	N/A	Uncertain Significance
BARD1	p.V507M	c.1519G>A	65.39%	N/A	Benign
BARD1	p.H506=	c.1518T>C	87.49%	N/A	Benign
BARD1	p.R378S	c.1134G>C	67.73%	N/A	Benign
BARD1	p.P24S	c.70C>T	65.48%	N/A	Benign
BLM	p.A603V	c.1808C>T	19.77%	N/A	Uncertain Significance
BLM	p.Q615=	c.1845A>G	21.37%	N/A	Likely Benign
BLM	p.H660Qfs*2	c.1979dupA	22.32%	21.70%	Pathogenic
BLM	p.G921=	c.2763C>T	17.63%	N/A	Likely Benign
BLM	p.T1034=	c.3102G>A	41.77%	N/A	Benign
BLM	p.A1177=	c.3531C>A	39.14%	N/A	Benign
BLM	p.L1315=	c.3945C>T	42.43%	N/A	Benign
BRCA1	p.S663N	c.1988G>A	20.06%	N/A	Uncertain Significance
BRCA1	p.S1634G	c.4900A>G	63.98%	59.90%	Benign
BRCA1	p.S1436=	c.4308T>C	60.76%	N/A	Benign
BRCA1	p.K1183R	c.3548A>G	61.42%	62.70%	Benign
BRCA1	p.E1038G	c.3113A>G	66.25%	N/A	Benign
BRCA1	p.P871L	c.2612C>T	70.89%	70.70%	Benign
BRCA1	p.L771=	c.2311T>C	66.45%	N/A	Benign
BRCA1	p.S694=	c.2082C>T	64.64%	61.90%	Benign
BRCA2	p.A487V	c.1460C>T	19.13%	21.20%	Uncertain Significance
BRCA2	p.N289H	c.865A>C	39.45%	42.30%	Benign
BRCA2	p.S455=	c.1365A>G	44.47%	42.10%	Benign
BRCA2	N/A	c.1909+2T>C	19.93%	21.00%	Pathogenic
BRCA2	p.H743=	c.2229T>C	44.94%	N/A	Benign
BRCA2	p.N991D	c.2971A>G	42.44%	42.70%	Benign
BRCA2	p.N1287Ifs*6	c.3860delA	20.29%	21.00%	Pathogenic
BRCA2	p.D1476G	c.4427A>G	20.94%	20.20%	Likely Pathogenic
BRCA2	p.L1521=	c.4563A>G	100.00%	N/A	Benign
BRCA2	p.R2784Q	c.8351G>A	19.35%	19.60%	Pathogenic
BRCA2	p.V2014E	c.6041T>A	20.34%	N/A	Likely Pathogenic
BRCA2	p.V2171=	c.6513G>C	100.00%	N/A	Benign
BRCA2	p.V2466A	c.7397T>C	99.93%	100.00%	Benign
BRCA2	p.Q2934*	c.8800C>T	20.85%	21.40%	Pathogenic
BRIP1	p.N933I	c.2798A>T	17.19%	N/A	Uncertain Significance
BRIP1	p.E879=	c.2637A>G	100.00%	N/A	Benign
CDK12	p.R300K	c.899G>A	20.66%	N/A	Uncertain Significance
CDK12	p.I873N	c.2618T>A	21.51%	N/A	Uncertain Significance
CHEK1	p.Y390=	c.1170T>C	19.17%	N/A	Likely Benign
CHEK1	p.I471V	c.1411A>G	100.00%	N/A	Benign
CHEK2	N/A	c.721+2T>C	20.41%	21.80%	Pathogenic
CHEK2	p.R188W	c.562C>T	20.76%	20.80%	Pathogenic
FANCA	p.P1218=	c.3654A>G	24.45%	N/A	Benign
FANCA	N/A	c.3067-4T>C	23.56%	N/A	Benign
FANCA	p.S967=	c.2901C>T	22.71%	N/A	Benign
FANCA	N/A	c.2779-7T>C	21.82%	N/A	Benign
FANCA	p.P643A	c.1927C>G	15.81%	N/A	Benign
FANCA	p.G501S	c.1501G>A	67.88%	N/A	Benign
FANCA	p.T381=	c.1143G>T	22.18%	N/A	Benign
FANCA	N/A	c.894-8A>G	24.39%	N/A	Benign
FANCA	p.S208L	c.623C>T	24.07%	N/A	Uncertain Significance
FANCC	p.G307V	c.920G>T	20.92%	N/A	Uncertain Significance
FANCC	p.A158V	c.473C>T	18.75%	N/A	Likely Benign
FANCC	p.S156=	c.468A>G	18.39%	N/A	Likely Benign
FANCF	p.L111=	c.331C>T	3.45%	N/A	Likely Benign
FANCI	p.K849=	c.2547G>A	100.00%	N/A	Benign
FANCL	p.A299T	c.895G>A	19.97%	N/A	Likely Benign
FANCL	N/A	c.791-10delT	22.98%	N/A	Uncertain Significance
FANCM	p.L42=	c.126G>A	2.39%	N/A	Likely Benign
FANCM	N/A	c.1788+6T>C	22.34%	N/A	Uncertain Significance
FANCM	p.V878L	c.2632G>T	44.96%	N/A	Benign
FANCM	p.Q1333Tfs*11	c.3996_3997insA	16.52%	N/A	Likely Pathogenic
FANCM	p.S1949T	c.5845T>A	22.68%	21.00%	Uncertain Significance
FANCM	p.M2010V	c.6028A>G	21.53%	21.20%	Uncertain Significance
MRE11A	N/A	c.1867+6T>C	19.94%	N/A	Uncertain Significance
MRE11A	N/A	c.315-5_315-4delTT	38.89%	N/A	Uncertain Significance
NBN	N/A	c.1398-10delT	20.05%	N/A	Uncertain Significance
NBN	p.L34=	c.102G>A	41.94%	N/A	Benign
NBN	N/A	c.38-10_38-9insA	14.76%	N/A	Uncertain Significance
PALB2	p.G808*	c.2422G>T	17.58%	20.80%	Pathogenic
PPP2R2A	p.C249Y	c.746G>A	18.13%	N/A	Uncertain Significance
RAD50	p.K722Rfs*14	c.2165delA	19.49%	N/A	Pathogenic
RAD51B	p.R348G	c.1042A>G	23.42%	N/A	Likely Benign
RAD51C	p.T287A	c.859A>G	19.52%	N/A	Benign
RAD51D	p.V66=	c.198G>T	20.14%	N/A	Likely Benign
RAD52	p.R253C	c.757C>T	22.43%	N/A	Uncertain Significance
RAD52	N/A	c.348+7_348+8insA	29.60%	N/A	Uncertain Significance
RAD54L	p.R587W	c.1759C>T	21.40%	N/A	Likely Benign
RPA1	p.A128V	c.383C>T	18.76%	N/A	Uncertain Significance
RPA1	p.S352=	c.1056C>T	43.54%	N/A	Benign
RPA1	p.E363Kfs*60	c.1087delG	21.20%	N/A	Pathogenic
RPA1	p.S535=	c.1605T>C	40.91%	N/A	Benign

Gene	Protein Change	CDS Change	AF-NGS	AF-ddPCR	Clinical significance
ATM	p.Q628fs	c.1880dupT	22.40%	21.70%	Pathogenic
ATM	p.N1983S	c.5948A>G	99.93%	N/A	Benign
ATM	p.A2843V	c.8528C>T	19.51%	N/A	Likely Pathogenic
ATR	p.R2425Q	c.7274G>A	20.82%	N/A	Benign
ATR	N/A	c.6552+5A>G	5.54%	N/A	Uncertain Significance
ATR	N/A	c.4153-11_4153-10delTT	17.00%	18.90%	Uncertain Significance
ATR	p.I774Yfs*5	c.2320delA	24.88%	N/A	Uncertain Significance
ATR	p.L711F	c.2131C>T	3.55%	N/A	Likely Benign
ATR	p.D564=	c.1692T>C	19.36%	N/A	Likely Benign
BARD1	p.A724T	c.2170G>A	11.25%	N/A	Uncertain Significance
BARD1	p.V507M	c.1519G>A	65.39%	N/A	Benign
BARD1	p.H506=	c.1518T>C	87.49%	N/A	Benign
BARD1	p.R378S	c.1134G>C	67.73%	N/A	Benign
BARD1	p.P24S	c.70C>T	65.48%	N/A	Benign
BLM	p.A603V	c.1808C>T	19.77%	N/A	Uncertain Significance
BLM	p.Q615=	c.1845A>G	21.37%	N/A	Likely Benign
BLM	p.H660Qfs*2	c.1979dupA	22.32%	21.70%	Pathogenic
BLM	p.G921=	c.2763C>T	17.63%	N/A	Likely Benign
BLM	p.T1034=	c.3102G>A	41.77%	N/A	Benign
BLM	p.A1177=	c.3531C>A	39.14%	N/A	Benign
BLM	p.L1315=	c.3945C>T	42.43%	N/A	Benign
BRCA1	p.S663N	c.1988G>A	20.06%	N/A	Uncertain Significance
BRCA1	p.S1634G	c.4900A>G	63.98%	59.90%	Benign
BRCA1	p.S1436=	c.4308T>C	60.76%	N/A	Benign
BRCA1	p.K1183R	c.3548A>G	61.42%	62.70%	Benign
BRCA1	p.E1038G	c.3113A>G	66.25%	N/A	Benign
BRCA1	p.P871L	c.2612C>T	70.89%	70.70%	Benign
BRCA1	p.L771=	c.2311T>C	66.45%	N/A	Benign
BRCA1	p.S694=	c.2082C>T	64.64%	61.90%	Benign
BRCA2	p.A487V	c.1460C>T	19.13%	21.20%	Uncertain Significance
BRCA2	p.N289H	c.865A>C	39.45%	42.30%	Benign
BRCA2	p.S455=	c.1365A>G	44.47%	42.10%	Benign
BRCA2	N/A	c.1909+2T>C	19.93%	21.00%	Pathogenic
BRCA2	p.H743=	c.2229T>C	44.94%	N/A	Benign
BRCA2	p.N991D	c.2971A>G	42.44%	42.70%	Benign
BRCA2	p.N1287Ifs*6	c.3860delA	20.29%	21.00%	Pathogenic
BRCA2	p.D1476G	c.4427A>G	20.94%	20.20%	Likely Pathogenic
BRCA2	p.L1521=	c.4563A>G	100.00%	N/A	Benign
BRCA2	p.R2784Q	c.8351G>A	19.35%	19.60%	Pathogenic
BRCA2	p.V2014E	c.6041T>A	20.34%	N/A	Likely Pathogenic
BRCA2	p.V2171=	c.6513G>C	100.00%	N/A	Benign
BRCA2	p.V2466A	c.7397T>C	99.93%	100.00%	Benign
BRCA2	p.Q2934*	c.8800C>T	20.85%	21.40%	Pathogenic
BRIP1	p.N933I	c.2798A>T	17.19%	N/A	Uncertain Significance
BRIP1	p.E879=	c.2637A>G	100.00%	N/A	Benign
CDK12	p.R300K	c.899G>A	20.66%	N/A	Uncertain Significance
CDK12	p.I873N	c.2618T>A	21.51%	N/A	Uncertain Significance
CHEK1	p.Y390=	c.1170T>C	19.17%	N/A	Likely Benign
CHEK1	p.I471V	c.1411A>G	100.00%	N/A	Benign
CHEK2	N/A	c.721+2T>C	20.41%	21.80%	Pathogenic
CHEK2	p.R188W	c.562C>T	20.76%	20.80%	Pathogenic
FANCA	p.P1218=	c.3654A>G	24.45%	N/A	Benign
FANCA	N/A	c.3067-4T>C	23.56%	N/A	Benign
FANCA	p.S967=	c.2901C>T	22.71%	N/A	Benign
FANCA	N/A	c.2779-7T>C	21.82%	N/A	Benign
FANCA	p.P643A	c.1927C>G	15.81%	N/A	Benign
FANCA	p.G501S	c.1501G>A	67.88%	N/A	Benign
FANCA	p.T381=	c.1143G>T	22.18%	N/A	Benign
FANCA	N/A	c.894-8A>G	24.39%	N/A	Benign
FANCA	p.S208L	c.623C>T	24.07%	N/A	Uncertain Significance
FANCC	p.G307V	c.920G>T	20.92%	N/A	Uncertain Significance
FANCC	p.A158V	c.473C>T	18.75%	N/A	Likely Benign
FANCC	p.S156=	c.468A>G	18.39%	N/A	Likely Benign
FANCF	p.L111=	c.331C>T	3.45%	N/A	Likely Benign
FANCI	p.K849=	c.2547G>A	100.00%	N/A	Benign
FANCL	p.A299T	c.895G>A	19.97%	N/A	Likely Benign
FANCL	N/A	c.791-10delT	22.98%	N/A	Uncertain Significance
FANCM	p.L42=	c.126G>A	2.39%	N/A	Likely Benign
FANCM	N/A	c.1788+6T>C	22.34%	N/A	Uncertain Significance
FANCM	p.V878L	c.2632G>T	44.96%	N/A	Benign
FANCM	p.Q1333Tfs*11	c.3996_3997insA	16.52%	N/A	Likely Pathogenic
FANCM	p.S1949T	c.5845T>A	22.68%	21.00%	Uncertain Significance
FANCM	p.M2010V	c.6028A>G	21.53%	21.20%	Uncertain Significance
MRE11A	N/A	c.1867+6T>C	19.94%	N/A	Uncertain Significance
MRE11A	N/A	c.315-5_315-4delTT	38.89%	N/A	Uncertain Significance
NBN	N/A	c.1398-10delT	20.05%	N/A	Uncertain Significance
NBN	p.L34=	c.102G>A	41.94%	N/A	Benign
NBN	N/A	c.38-10_38-9insA	14.76%	N/A	Uncertain Significance
PALB2	p.G808*	c.2422G>T	17.58%	20.80%	Pathogenic
PPP2R2A	p.C249Y	c.746G>A	18.13%	N/A	Uncertain Significance
RAD50	p.K722Rfs*14	c.2165delA	19.49%	N/A	Pathogenic
RAD51B	p.R348G	c.1042A>G	23.42%	N/A	Likely Benign
RAD51C	p.T287A	c.859A>G	19.52%	N/A	Benign
RAD51D	p.V66=	c.198G>T	20.14%	N/A	Likely Benign
RAD52	p.R253C	c.757C>T	22.43%	N/A	Uncertain Significance
RAD52	N/A	c.348+7_348+8insA	29.60%	N/A	Uncertain Significance
RAD54L	p.R587W	c.1759C>T	21.40%	N/A	Likely Benign
RPA1	p.A128V	c.383C>T	18.76%	N/A	Uncertain Significance
RPA1	p.S352=	c.1056C>T	43.54%	N/A	Benign
RPA1	p.E363Kfs*60	c.1087delG	21.20%	N/A	Pathogenic
RPA1	p.S535=	c.1605T>C	40.91%	N/A	Benign

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Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard

Product Overview

Core Advantages

Clinical Relevance & Realism

Comprehensive Mutation Coverage

Rigorous Multi-Platform Validation

Flexibility for Diverse Use Cases

Service Process

Consultation & Requirement Alignment

Secure Delivery & Documentation

Post-Delivery Technical Support

Long-Term QC Support

Why Choose This HRR Standard?

Product Overview

Core Advantages

Clinical Relevance & Realism

Comprehensive Mutation Coverage

Rigorous Multi-Platform Validation

Flexibility for Diverse Use Cases

Service Process

Consultation & Requirement Alignment

Secure Delivery & Documentation

Post-Delivery Technical Support

Long-Term QC Support

Why Choose This HRR Standard?

AI-Edigene® EGFR p.T790M Reference Standard Plus

AI-Edigene® BRAF p.K601E Reference Standard Plus

AI-Edigene® c-KIT p.D816V Reference Standard Plus

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