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London

Smokers with genetic mutation see better cancer outcomes

Heavy smokers diagnosed with head and neck cancer are more likely to see improved outcomes if they carry a particular genetic mutation, a London-based study has found.

Researchers at the Lawson Health Research Institute in collaboration with the Ontario Institute for Cancer Research and UCLA Cancer Centre conducted a comprehensive genetic analysis of human papillomavirus(HPV)-negative tumours to better understand the link between smoking and cancer recovery. They found two genes - NSD1 and COL1A11 - were more frequently mutated in heavy smokers.

“We were surprised to find that patients carrying the NSD1 mutation experienced significantly better outcomes compared to those carrying the wild-type gene," said Dr. Anthony Nichols, Lawson scientist and chair of the Head and Neck Disease Site Team at London Health Science Centre. "Smoking is definitely bad and causes head and neck, and numerous other cancers, however, a subset of these smoking-related cancers that carry NSD1 tend to be significantly less aggressive."

Researchers targeted gene sequencing of NSD1 in 77 oral cavity cancer tumours in patients at the London Health Science Centre and found patients with NSD1 mutations had a better overall survival rate.

“The NSD1 mutation could be used as a clinical biomarker for less intense treatment protocols, ultimately benefiting the patient by improving their quality of life with fewer side effects," added Nichols.

Head and neck squamous cell carcinoma is the fifth most common cancer worldwide. The disease and its treatment are known to have a significantly negative effect on a patient's quality of life due to disfigurement and difficulty speaking and swallowing.

Roughly 25 per cent of head and neck cancers are caused by HPV oral infections and are typically found in younger, non smokers. Lawson researchers indicated this type of tumour is responsive to treatment. The bulk of HPV-negative tumours are caused by smoking, although one-third of patients diagnosed with this type of tumour has no history of cigarette use.

The study, titled “mutational analysis of head and neck squamous cell carcinoma stratified by smoking status,” was recently published in JCI Insight.

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