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Received — 9 January 2025 ⏭ Favourites

Heritable polygenic editing: the next frontier in genomic medicine?

✇Nature - Issue - nature.com science feeds
By: Peter M. Visscher · Christopher Gyngell · Loic Yengo · Julian Savulescu
8 January 2025 at 08:00

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08300-4

We discuss the potential consequences and ethical concerns of polygenic genome editing of human embryos to alter specific variants associated with polygenic diseases, highlighting the possibility of reducing disease susceptibility while exacerbating health inequalities.

Functional evaluation and clinical classification of <i>BRCA2</i> variants

✇Nature - Issue - nature.com science feeds
By: Huaizhi Huang · Chunling Hu · Jie Na · Steven N. Hart · Rohan David Gnanaolivu · Mohamed Abozaid · Tara Rao · Yohannes A. Tecleab · Christine B. Ambrosone · Song Yao · Amy Trentham-Dietz · A. Heather Eliassen · Lauren R. Teras · Alpa Patel · Christopher A. Haiman · Esther M. John · Elena Martinez · James V. Lacey · Dale P. Sandler · Clarice R. Weinberg · Julie R. Palmer · Celine M. Vachon · Janet E. Olson · Kathryn E. Ruddy · Hoda Anton-Culver · Jeffrey N. Weitzel · Peter Kraft · Tina Pesaran · Paulo Cilas Morais Lyra · Rachid Karam · Siddhartha Yadav · Katherine L. Nathanson · Susan M. Domchek · Miguel de la Hoya · Mark Robson · Miika Mehine · Chaitanya Bandlamudi · Diana Mandelker · Alvaro N. A. Monteiro · Edwin S. Iversen · Nicholas Boddicker · Wenan Chen · Marcy E. Richardson · Fergus J. Couch
8 January 2025 at 08:00

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08388-8

Results from a comprehensive evaluation of the function of BRCA2 variants, particularly variants of uncertain significance, provide a useful resource to improve the clinical management of individuals who carry such genetic variants.

Complex rearrangements fuel ER<sup>+</sup> and HER2<sup>+</sup> breast tumours

✇Nature - Issue - nature.com science feeds
By: Kathleen E. Houlahan · Lise Mangiante · Cristina Sotomayor-Vivas · Alvina Adimoelja · Seongyeol Park · Aziz Khan · Sophia J. Pribus · Zhicheng Ma · Jennifer L. Caswell-Jin · Christina Curtis
8 January 2025 at 08:00

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08377-x

A study identifies three dominant genomic archetypes of breast cancer induced by discrete mutational processes, describing a continuum of genomic profiles and detailing the mechanisms underlying the progression of breast cancer.
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