Predisposition to Hereditary Cancers
Long-read approach to MEFV, TTR, PMS2 genes and BRCA1/2
Cancer remains a significant cause of illness and death in Ireland, with one in two people expected to develop cancer in their lifetime. It is estimated that inherited gene variants are responsible for between 5 and 10% of cancers. The potential benefit to a patient and their relatives includes reducing the risk of cancer developing, identifying cancer at an earlier more treatable stage, informing the optimal choice of targeted therapy if a cancer develops and facilitating reproductive options for the individual.
The two most common hereditary cancer syndromes are:
- Hereditary Breast and Ovarian Cancer (HBOC) Syndrome - caused by a pathogenic BRCA1 or BRCA2 gene variant and characterised by increased risk for female and male breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, melanoma and other cancers.
- Lynch syndrome is caused by a pathogenic gene variant of one of five genes – MLH1, MSH2, MSH6, PMS2 and EPCAM. Lynch syndrome is characterised by an increased risk for colorectal, endometrial and other cancers.
In our test Request form, you can choose from 9 gene panels or order a Whole Exome Sequence. The 9 panels include;
| Breast/Ovary & Prostate panel (15 genes) | Digestive Tube panel (14 genes) |
| Pancreas panel (16 genes) | Kidney panel (20 genes) |
| Skin panel (16 genes) | Lung panel (15 genes) |
| Neuroendocrine panel (28 genes) | Extended oncogenetic panel (75 genes) |
| Retinoblastoma (RG1 gene study) |
Oncogenetics - Predisposition to Hereditary Cancers - Exome Test
Choose WES instead of a gene panel if you suspect a genetic origin but the specific gene(s) are unknown, or when symptoms are unusual or affect multiple organ systems
Test Request form: https://www.eurofins-biomnis.com//referentiel/liendoc/renseignements/INTGB/B67-INTGB-Oncogenetics_exome.pdf
Cancer predisposition gene panels are processed using short read sequencing. We use the long-read approach for the study of PMS2 and BRCA1/2. Driven notably by Oxford Nanopore Technologies, the long-read approach offers a comprehensive study of exonic and intronic regions, detection of sequence variants, deletions, and insertions along with a reduction of sequencing time.
BRCA 1 / 2:
BRCA1 and BRCA2 genes confer a well-established increased risk of breast and ovarian cancer. They are involved in DNA repair processes and are tumor suppressor .
Read more: https://www.eurofins-biomnis.com/referentiel/liendoc/renseignements/INTGB/DS123-INTGB-Fast_BRCA.pdf
Test Request Form: https://www.eurofins-biomnis.com//referentiel/liendoc/renseignements/INTGB/B109-INTGB-BRCA1_BRCA2.pdf
PMS2:
PMS2 long read is a second-line analysis after a short read panel.
Read more: https://www.eurofins.ie/media/jdrmpxld/long-read-psm2.pdf (Nadege link)
Test Request Form?
Pharmacogenetics (PGx) test:
This test is designed to reduce adverse drug side effects and improve drug efficacy.
Test request form: https://www.eurofins-biomnis.com/referentiel/liendoc/renseignements/INTGB/B110-INTGB-Profil_pharmacogenetique.pdf
