A new study has revealed that genetic testing of patients with a rare form of cancer can pick out genetic errors hidden in their family that increases the risk of a wide range of cancer types.
Genetic testing analyses particular inherited changes or mutations in a person’s chromosomes, genes, or proteins.
Genetic mutations can have different effects on different people, which can be harmful, beneficial, neutral or uncertain.
The study has been conducted by a team of researchers from The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, and University College London Hospitals NHS Foundation Trust, which is led internationally by scientists at Garvan Institute of Medical Research in Australia.
The research team studied patients with rare cancers known as sarcoma, in a bid to know about the genetic causes of multiple cancers within families.
The study revealed that more than half of 1,162 patients with sarcoma tested were born with mutations in at least one gene, which already increases the risk of cancer.
The Institute of Cancer Research personalised oncology professor, The Royal Marsden NHS Foundation Trust consultant and UK project leader professor Winette van der Graaf said: “The research helps explain why some patients with sarcoma are prone to develop other cancers in their lifetime, and provides new clues to the phenomenon of ‘cancer families’.
“This collaborative work also suggests that much of inherited cancer predisposition may be due to defects in multiple genes working together, any one of which would be unlikely to cause cancer on its own.”
The researchers also revealed that 19% of the patients tested had mutations that could be targeted by new or existing cancer drugs.
The team initially focused on assessing the DNA sequence of 72 genes connected to increased cancer risk in the 1,162 sarcoma patients of more than 15 years of age.
The results revealed that approximately 55% of the patients carried harmful mutations in at least of one of the 72 genes tested.
Inherited mutations in the genes BRCA2, ATM, ATR and ERCC2 were detected to be common in sarcoma patients.
One-fifth of the patients had mutations in more than one of the genes tested, while people with genetic errors in multiple cancer genes had more chances of being affected with cancer at a younger age than those with a single genetic mutation.
Image: Optical Coherence Tomography (OCT) image of a sarcoma. Photo: courtesy of Dr Stephen Boppart / Biophotonics Imaging Laboratory / University of Illinois at Urbana-Champaign.
