MOLECULAR LABORATORY
Overview
Molecular diagnostics at RGCI&RC is a NABL accredited laboratory developed under the leadership of Dr Anurag Mehta. It is one of the most dynamic and transformative departments with interplay of genomic knowledge, laboratory medicine and state of art technology. Molecular laboratory menu has steadily grown in all applications ranging from infectious disease, genetic, and oncology testing. It currently offers more than 100 tests (Directory of Services). This varied portfolio is realized by diverse complex machinery facilitating tests for solid organ and hematological malignancies. The available testing platforms range from real time PCR for single gene testing, Fluorescent In situ Hybridization, Sanger sequencing for miscellaneous applications including tests based on fragment length analysis to high throughput Next Generation sequencing for genetic predisposition, tumor specific panels, tumor mutation burden and liquid biopsy. Laboratory maintains robust external and internal quality assurance programs in the face of emerging technologies, and an evolving regulatory landscape of Precision Medicine biomarkers.
Knowledge Centre
Special Feature – Inherited Cancer Syndromes
- Hereditary Breast – Ovarian Cancer Syndromes & Brca Testing
Cancer occurs by interplay of environment, lifestyle and a minor component of susceptibility in 85% of patients. In minority of individuals with ovarian cancer (~14%) or breast cancer (approximately 5%) or prostate cancer (~ 5%) or pancreatic cancer (~ 5%) the mutation in the BRCA1 or BRCA2 gene plays an all-important and overarching role. People with BRCA mutations have a lifetime risk of developing these cancers as given in Table below.
Cancer Type | Germline BRCA1 mutated | Germline BRCA2 mutated | No. of times the risk in Germline BRCA mutated population |
---|---|---|---|
Breast Cancer Female | 70% | 40% | 4-5 folds |
Ovarian Cancer | 50% | 30% | 30 folds |
Breast Cancer Male | 1.20% | 6.8% | 50 folds |
Prostate Cancer | 2% | 5% | 3-8.6 folds |
Pancreatic Cancer | 1% | 1% | 2-4 folds |
BRCA testing is recommended for all patients of ovarian cancer, some patients of Breast cancers, all patients with metastatic prostate and pancreatic cancers. It is important to identify if cancer is due to a BRCA1 or BRCA2 mutation because it provides you and your doctors with information that can help treat your cancer and to reduce your risk of future cancer. In addition, BRCA testing is also recommended for First Degree Relatives from 3 generations of a breast / ovarian/ pancreatic/prostate cancer patient with BRCA mutation to identify mutation carriers and encourage them to adopt risk-reducing strategies