Tag Archives: Breast Cancer









Overview


Minagene's HRR gene testing utilizes tumor and germline matched comprehensive genomic profiling to screen for mutations in homologous recombination repair genes (BRCA1, BRCA2, PALB2, etc.).



Methodology



Tissue specimens


Tissue specimens undergo nucleic acid extraction and library preparation for hybrid capture-based next generation sequencing of all clinically actionable exons/introns across 45+ key HRR genes. Proprietary bioinformatics analyze both somatic and constitutional alterations to determine eligibility for PARP and other targeted therapies.


Key Highlights of Minagene’s Homologous Recombination Repair Gene Testing


Key Highlights of Minagene’s Homologous Recombination


-Identifies defective HRR signature regardless of cancer type


-Determines germline/somatic origin of pathogenic variants


-Assesses complex genomic profiles for synthetic lethality


-Supports treatment with PARP inhibitors, platinum agents


-Improves outcomes through precision therapy selection


By using an unbiased multi-gene approach, Minagene’s solution comprehensively interrogates the HRR pathway. Matched tumor-normal analysis guides definitive targeted therapy and enrollment in investigative clinical trials.


When to Consider Minagene’s Homologous Recombination Repair Gene Testing


Physicians should order HRR testing for advanced solid tumors refractory to standard therapies, particularly ovarian and breast cancers evaluated for PARP inhibitors.










Methodology



BRCA gene testing


BRCA gene testing utilizes Next Generation Sequencing (NGS) based genomic DNA analysis to identify multiple harmful mutations. This comprehensive approach covers various mutations, including single nucleotide variations (SNVs), short insertions and deletions (InDels), structural variants, and copy number variations.


Mutations Covered


The test covers 100% of the BRCA1 and BRCA2 genes. It demonstrates high sensitivity and specificity in detecting SNVs and InDels, achieving an accuracy rate of 100%.


Personal history


-Breast or ovarian cancer diagnosed at a young age (premenopausal)


-Bilateral breast cancer (affecting both breasts)


-Presence of both ovarian and breast cancer


Family history


Family history


-Breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer in family members


-Male family member with breast cancer


-A relative with a known deleterious mutation in BRCA1 or BRCA2 genes


-Breast cancer diagnosed below the age of 45


-Bilateral breast cancer in a family member below the age of 50


-Triple-negative breast cancer below the age of 60 with or without family history


-Two or more relatives with ovarian cancer


-Both breast and ovarian cancers in either the same woman or the same family


BRCA gene testing provides a comprehensive assessment of harmful mutations in the BRCA1 and BRCA2 genes. By identifying individuals at risk, this testing can guide medical management decisions, facilitate early detection, and improve patient outcomes.