Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

doi:10.1016/j.ajhg.2024.09.002

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Article

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

American journal of human genetics - 7 Nov 2024

Yin Xiaoyu, Richardson Marcy, Laner Andreas, Shi Xuemei, Ognedal Elisabet, Vasta Valeria, Hansen Thomas V O, Pineda Marta, Ritter Deborah, de Dunnen Johan, Hassanin Emadeldin, Lin Wencong Lyman, Borras Ester, Krahn Karl, Nordling Margareta, Martins Alexandra, Mahmood Khalid, Nadeau Emily, Beshay Victoria, Tops Carli, Genuardi Maurizio, Pesaran Tina, Frayling Ian M, Capellá Gabriel, Latchford Andrew, Tavtigian Sean V, Maj Carlo, Plon Sharon E, Greenblatt Marc S, Macrae Finlay A, Spier Isabel, Aretz Stefan

Abstract excerpt

Pathogenic constitutional APC variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUSs), APC-specific variant classification criteria were developed by the ClinGen-InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert...

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PMID: 39357517
DOI: 10.1016/j.ajhg.2024.09.002
PMCID: PMC11568752

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