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Study identifies thousands of high-risk cancer gene variants

July 8, 2024 6:58 PM IST

cancer | Dr. Andrew Waters | Professor Clare Turnbull | BAP1 | IGF-1 | Nature Genetics | Wellcome Sanger Institute | The Institute of Cancer Research | University of Cambridge | London

Scientists have made a groundbreaking discovery, identifying over 5,000 genetic variations that contribute to cancer growth. This landmark study, conducted by researchers from the Wellcome Sanger Institute, The Institute of Cancer Research, London, and the University of Cambridge, also uncovered a potential therapeutic target for treating and possibly preventing certain cancers.

The research, published in Nature Genetics, focused on the BAP1 gene, known as a ‘tumor defense’ gene. Using an innovative technique called ‘saturation genome editing’, the team analyzed all 18,108 possible DNA changes in the BAP1 gene. They found that 5,665 of these changes were harmful, disrupting the protein’s protective effects against cancers of the eye, lung lining, brain, skin, and kidney.

Dr. Andrew Waters, the study’s lead author, highlighted the significance of their approach. He said, “Our method provides a true picture of gene behavior, enabling larger and more complex studies of genetic variation. This opens up new possibilities for understanding how these changes drive disease.”

A key finding was the link between certain BAP1 variants and elevated levels of IGF-1, a hormone associated with cancer growth. This discovery paves the way for potential new treatments targeting IGF-1 to slow down or prevent cancer progression.

Importantly, the study’s comprehensive approach benefits individuals from diverse ethnic backgrounds, addressing the historical underrepresentation of non-European populations in genetic research.

Professor Clare Turnbull, the study’s clinical lead, highlighted the potential impact: “This research could mean more accurate interpretation of genetic tests, earlier diagnoses, and improved outcomes for patients and their families.”

The findings are freely available, allowing immediate application by doctors for patient diagnosis and treatment selection. Looking ahead, Dr. David Adams, senior author of the study, expressed the team’s ambitious goal, saying, “We aim to apply this technique to a wider range of genes, potentially covering the entire human genome in the next decade with the Atlas of Variant Effects.”

(Inputs from ANI)

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