Huge genetic-screening effort helps pinpoint roots of breast cancer

Sep 17, 2018

By Heidi Ledford

A massive study of nearly 4,000 variants in a gene associated with cancer could help to pinpoint people at risk for breast or ovarian tumours.

The information is sorely needed: millions of people have had their BRCA1 gene sequenced. Some variations in the DNA sequence of BRCA1 are linked to breast and ovarian cancer; others are thought to be safe. But the effects of most variants are unknown, leaving patients and physicians alike at a loss to interpret the results.

The study, published on 12 September in Nature1, examined the effects of thousands of such variants on the survival of cells grown in the laboratory. The findings could help physicians to interpret the mutations’ significance. For example, a variant that hampers a cell’s ability to repair DNA in the lab might also be linked to cancer in the clinic.

“Every patient is different. Every physician is different,” says Jay Shendure, a geneticist at the Brotman Baty Institute for Precision Medicine in Seattle, Washington, and a co-author of the study. “But if such a variant were present in a family member of mine, would I use this information? Absolutely. Otherwise, there’s no information.”

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One comment on “Huge genetic-screening effort helps pinpoint roots of breast cancer”

  • Meanwhile genetics shows promise in tackling some other serious diseases:

    https://www.bbc.co.uk/news/science-environment-45628905

    Researchers have used gene editing to completely eliminate populations of mosquitoes in the lab.

    The team tested their technique on the mosquito Anopheles gambiae, which transmits malaria.

    They altered part of a gene called doublesex, which determines whether an individual mosquito develops as a male or as a female.

    This allowed the Imperial College London scientists to block reproduction in the female mosquitoes.

    They want to see if the technology could one day be used to control mosquito populations in the wild.

    Writing in the journal Nature Biotechnology, Prof Andrea Crisanti and colleagues report that caged populations of Anopheles gambiae collapsed within 7-11 generations.

    Dr Crisanti said: “2016 marked the first time in over two decades that malaria cases did not fall year-on-year despite huge efforts and resources, suggesting we need more tools in the fight.”

    The approach falls within a category of genetic engineering known as a gene drive. It describes technologies that spread a gene or particular suites of genes through a population.

    The researchers used the gene editing technique known as Crispr to modify a part of the doublesex gene that is responsible for female development.

    Males who carried the modified gene showed no changes, and neither did female mosquitoes with one copy of the modified gene.

    However, female insects with two copies of the altered gene showed both male and female characteristics, did not bite and did not lay eggs.



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