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Updated: Aug 10, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

[Genes involved in breast cancers]

Toshikazu Ushijima1, Masanobu Abe, Takao Maekita

  • 1Carcinogenesis Division, National Cancer Center Research Institute.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|March 15, 2006
PubMed

Insights

Targeted cancer therapies rely on specific molecular abnormalities. Trastuzumab targets ERBB2 amplification in invasive ductal carcinomas, while BRCA1/2 mutations and p53 alterations are key in breast cancer development and progression.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Context:

  • Specific molecular abnormalities in cancers serve as critical therapeutic targets.
  • Trastuzumab exemplifies successful targeted therapy, particularly for ERBB2-amplified invasive ductal carcinomas.
  • ERBB2 amplification (15-30%) and c-MYC amplification (13-19%) are significant in breast cancer, linked to poor prognosis and oncogene activation.

Purpose:

  • To highlight key molecular abnormalities in breast cancer.
  • To discuss the role of ERBB2, c-MYC, BRCA1/2, and p53 in breast cancer pathogenesis.
  • To underscore the importance of molecular profiling for identifying diagnostic and therapeutic targets.

Summary:

  • ERBB2 amplification is found in 15-30% of invasive ductal carcinomas, correlating with poor prognosis.
  • Germline BRCA1/2 mutations are linked to familial breast cancers; somatic mutations are rare in sporadic cases, but inactivation via promoter methylation is frequent.
  • p53 mutations occur in 20-25% of sporadic breast cancers, with pathway inactivation being more common.

Impact:

  • Identifies ERBB2 amplification as a key target for breast cancer therapeutics.
  • Reveals the distinct roles of germline vs. somatic mutations and methylation in BRCA1/2 inactivation.
  • Emphasizes the prevalence of p53 pathway alterations in sporadic breast cancers.
  • Suggests that continued molecular analysis will uncover novel diagnostic and therapeutic strategies for cancer.

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