TEST CODE: 008857

DIAGNOSTIC TEST FOR: MELANOMA,LUNG & BOWEL CANCER TARGETED TESTING

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Melanoma, Lung & Bowel Cancer Targeted Testing

The Melanoma, Lung & Bowel Cancer Targeted Testing Panel is a specialised sequencing panel that analyses 23 genes commonly implicated in these cancer types. Our panel analyses hotspots and targeted regions in the genes most commonly implicated in these cancers including the:

– BRAF gene in melanoma

– EGFR gene in lung cancer

– KRAS / NRAS genes in bowel cancer

In contrast to some other tests, which only detect a specific subset of known mutations in these genes, our Melanoma, Lung & Bowel Cancer Targeted Testing Panel is also able to identify novel mutations and mutations in less commonly mutated genes, in these cancers, included on this panel.

What sample do you need to perform the test?

To perform this test we require tissue that has been excised from your most recent biopsy/resection. Previous or historical biopsies can also be used in most cases* and a new biopsy is not usually required.

*Please contact Genomed if your most recent biopsy was more than one year ago or if no biopsy is available to discuss testing options

What is included in the Melanoma, Lung & Bowel Cancer Targeted Testing Panel analysis?

The analysis may detect mutations in the following genes:

How can I use the results of the test?

Mutational analysis is important to clinical decision-making in cases of tumours as an aid for therapy treatment decisions. Tumour molecular profiling is a fundamental component of precision oncology, enabling the identification of genomic alterations in genes and pathways that can be targeted therapeutically. Genetic mutations are identified in most cancers. The most common genes involved in melanoma, lung cancer and bowel cancer are BRAF, EGFR, NRAS and KRAS, all of which are included on this specially developed panel. 

– Up to 50% of melanomas will have a BRAF mutation Of BRAF mutant melanomas up to 90% will have the specific BRAF V600E mutation

– Up to 35% of Non-small cell lung carcinomas (NSCLCs) will have an EGFR mutation

 > Of EGFR mutant NSCLCs up to 43% will have the specific EGFR L858R mutation and 48% will have an EGFR exon 19  deletion

> 50% of EGFR-mutated tumours treated with EGFR TKIs will develop the EGFR T790M resistance mutation

– Up to 40% of colorectal cancers will have an KRAS mutation

– Up to 6% of colorectal cancers will have an NRAS mutation

If these mutations are identified in your tumour, it may highlight a number of potential targeted therapy options, such as:

Alternatively genomic sequencing may indicate which treatments are unlikely to be beneficial and can help direct treatment away from expensive drugs with little clinical benefit.

Melanoma

Patients with advanced melanoma with tumours lacking BRAF mutations DO NOT benefit from targeted treatment with BRAF Inhibitors such as vemurafenib and dabrafenib.

Lung Cancer

Compared to lung cancers with EGFR activating mutations, tumours with no mutation detected in EGFR are less sensitive to the EGFR TKIs, erlotinib, gefitinib and afatinib. [1]

KRAS mutations are associated with resistance to EGFR TKIs. [2]

Colorectal Cancer

Patients with advanced colorectal cancer with tumours harbouring KRAS / NRAS mutations are unlikely to benefit from treatment with anti-EGFR monoclonal antibodies such as cetuximab and panitumumab. 

Ready to take control of your treatment plan?

Genomed aims to educate patients and their families on their cancer types and empower them with the knowledge to take control of their treatment plans. As each patient’s case is unique, there is no “one size fits all” when it comes to testing. We encourage you to contact Genomed, and we can work with you and your oncologist/specialist, to determine what tests would benefit you.