Ann Lab Med.  2016 Mar;36(2):197-201. 10.3343/alm.2016.36.2.197.

Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening

• Park J
• Jang W
• Chae H
• Kim Y
• Chi HY
• Kim M

• KMID: 2373527
• DOI: http://doi.org/10.3343/alm.2016.36.2.197

Abstract

No abstract available.

MeSH Terms

BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Base Sequence
DNA/chemistry
Databases, Genetic
Female
Hereditary Breast and Ovarian Cancer Syndrome/genetics
High-Throughput Nucleotide Sequencing
Humans
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
BRCA1 Protein
BRCA2 Protein
DNA

Figure

• 

  Fig. 1 Identification of deleterious mutations in BRCA1 or BRCA2 by Sanger sequencing and next-generation sequencing (NGS), as visualized by Sequencher Software (top) and Integrative Genomics Viewer (IGV, bottom), respectively. The deletion(s) or base change is indicated by a red arrow in Sanger sequencing and is represented by a black dashes in IGV. (A) A deletion A at position 1700 of cDNA (c.1700delA; p.Asn567Ilefs*5) of BRCA1 in patient hereditary breast and/or ovarian cancer (HBOC)1; (B) A substitution C to T at position 3607 of cDNA (c.3607C>T; p.Arg1203*) of BRCA1 in patients HBOC3; (C) A deletion TGAG at position 3744-3747 of cDNA (c.3744_3747delTGAG; p.Ser1248Argfs*10) of BRCA2 in patient HBOC5; (D) A substitution C to T at position 7480 of cDNA (c.7480C>T; p.Arg2494*) of BRCA2 in patients HBOC6.

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