NEW: British Bangladeshi and Pakistani populations in the UK show distinct pathways to combined mental and physical illness. A 1… #Cardiometabolicdisease #GenesandHealthstudy #Geneticrisk #MentalHealth #Multimorbidity

Researchers have found that an unusually rare inherited mutation in the EGFR gene, known as EGFR T790M, dramatically increases the risk of lung cancer, including among people who have never smoked. The mutation makes lung cancer about 62 times more likely in lifelong nonsmokers and 10 times more likely in smokers, making it one of the strongest cancer-risk mutations identified to date. The mutation appears to have originated roughly 200 to 225 years ago in one or more people from the British Isles. Their descendants carried it to the United States, where it is now concentrated, particularly in Southern Appalachia and states such as Tennessee and Alabama. Researchers estimate that approximately one in 15,000 people in the United States carries the mutation, compared with about one in 2,000 people in Southern Appalachia. The findings, published in Science, were made possible by analyzing genetic and health information from 23andMe Research. The database included genetic data and lung-cancer information from about 3.37 million participants, 641 of whom carried the mutation. This large sample allowed scientists to estimate the mutation’s cancer risk and determine that it is specifically associated with lung cancer rather than a broad range of cancers. Unlike many EGFR mutations that develop randomly later in life, EGFR T790M is present from birth and does not prevent normal development. Researchers hope the discovery will lead to earlier detection, improved monitoring, and possibly preventive treatments for carriers. It also raises questions about whether people with the mutation should receive CT scans earlier or more frequently than current screening guidelines recommend, which generally focus on older smokers and former smokers.

Baylee Ferguson: Celebrating 5 years of fighting cancer with the American Cancer Society / American Cancer Society, Baylee Ferguson, cancer, cancer risk,

Three gene variants raise the risk of deadly venous blood clots by 180%. This genetic discovery could rewrite prevention and treatment.

A new study finds that having a father with Alzheimer’s could increase your risk more than previously thought—by leaving early, hidden marks on your brain.

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Age-related Macular degeneration (AMD) is a major cause of vision loss and is linked to several predisposing single nucleotide polymorphisms (SNPs). CRISPR-mediated genome editing offers the…

Genetic predisposition and maternal hyperglycemia exposure were independently and additively associated with impaired glucose tolerance in offspring.

The findings reveal promising biological pathways that could be explored in future therapies.

An international team has created a first-of-its-kind resource to identify people with genetic risk for elevated bad cholesterol, helping clinicians predict and prevent heart attacks and strokes. ...

Researchers investigated whether genetic risk for schizophrenia is associated with changes in retinal nerve connections, as the retina is a direct extension of the brain and may reflect brain alterati...

Genomic screening of more than 175,000 participants identified potentially actionable results in 1 in 30 individuals, highlighting its usefulness in detecting disease risk. ...

An algorithm based on blood metabolites improves on current glaucoma genetic risk scores and pinpoints metabolites that might protect against the disease. ...

PURPOSEMammaPrint (MP), a 70-gene expression profile assay, informs treatment decisions in early-stage breast cancer by classifying patients into high or low risk of recurrence categories. However, ra...