品名：Seraseq® gDNA BRCA1/2 LGR Inherited Mutation Mix

货号：0730-0568

品牌：SeraCare 

Product Specifications - gDNA BRCA1/2 LG RInherited Mutation Mix 

Genes：BRCA1.BRCA2 

Format：Purified gDNA 

Concentration：15 ng/uL 

Fill Volume：25uL 

Total Mass：375 ng 

Expected Variant AlleleFrequencies(VAFs)：-50% 

Buffer：1mM Tris,0.1 mM EDTA, pH 8 

List of BRCA Variants：See the Product Sheet(MKT-00818)theTechnical Product Reports or the TechnicalSpreadsheet

                                     (MKT-00821)available in theResource tab. 

Details

Genetic testing of the tumor suppressor genes BRCA1 and BRCA2 allows for the identification of DNA variants 

which are associated with a significantly elevated lifetime risk of breast, ovarian, pancreatic and prostate cancer. 

Large genomic rearrangements (LGRs) include deletions, duplications and/or insertions often involving whole 

exons. Usually pathogenic, they have been reported to account for up to 27% of the overall BRCA1[1] and 5% 

of BRCA2 disease-causing mutations [2] with a strong founder effect accounting for about 1/3rd of all disease 

diagnosis. Accurate detection of a BRCA1 or BRCA2 pathogenic variant has immense impact on clinical 

management of disease including patient’s eligibility for new PARP inhibitors. 

LGC Clinical Diagnostics has developed BRCA Reference Materials which include 10 variants in BRCA1 and 10 

variants in BRCA2 ranging in size from SNVs to insertions and/or deletions over 500 bp (11 exon-level large 

rearrangements), resulting in a variety of phenotypic alterations at the amino acid level, including missense, 

nonsense, frameshift, stop-gain/loss, splice-site, and insertion/deletion of partial or up to two exons (see 

Product Sheet MKT-00818 for more details). 

FEATURES AND BENEFITS

•Develop, monitor, validate and challenge your hybrid capture-based targeted NGS assays with confidence using 

a highly multiplexed reference material containing biomarkers important in BRCA-driven cancers. 

• Single sample with 20 pathogenic BRCA1/2 variants (11 LGRs, 9 deletions, 5 SNVs, 4 indels, and 2 insertions).

• Mutation targets quantitated by highly sensitive dPCR assays, and orthogonally analyzed by NGS. 

• All mutations are blended against the well-characterized GM24385 human genomic DNA as ‘wildtype’ 

background material. 

• Available as full process (FFPE curl) or purified genomic DNA at various allele frequencies suited for either somatic 

or germline testing. 

•Manufactured in GMP-compliant and ISO 13485-certified facilities. 

1. Wallace AJ. New challenges for BRCA testing: a view from the diagnostic laboratory. Eur J Hum Genet. 2016 Sep;

24 Suppl 1(Suppl 1):S10-8. doi: 10.1038/ejhg.2016.94. PMID: 27514839; PMCID: PMC5141576. 2. James PA, 

Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, 

Mitchell G. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with 

an increased frequency of high risk features. Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-

0. PMID: 25678442. 

维百奥生物代理SeraCare对照及参比物质。

维百奥（北京）生物科技有限公司，自2018年与SeraCare（现隶属于LGC Clinical Diagnostics）合作以来，长期为中国客户

提供包括SeraSeq系列参比物质，领域包括肿瘤、生殖健康和遗传病。SeraCare研发和生产一系列临床参比物质，可以用于任何

研发阶段，以确保临床基因组学检测结果的准确性。

SeraCare参比物质涵盖的范围：

1）Next Generation Sequencing

2）Sanger Sequencing

3）Real-time PCR and digital PCR (dPCR)

4）Microarray

主要特点

1）Ready-to-use reference materials covering clinically-relevant variants and all variant types - SNVs, INDELS, CNVs, 

and RNA fusions

2）Highly multiplexed - provide significantly more data per NGS run, saving sequencing costs

3）Available in multiple formats to suite different workflow needs - purified DNA & RNA, ctDNA, encapsulated ctDNA 

in plasma, and FFPE

4）Manufactured in cGMP-compliant, ISO 13485-certified facilities

5）Stringent product release testing - all variants qualified by dPCR for allele frequencies or copy numbers