Deciphering the Causative Role of a Novel <i>APC</i> Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing

<b>Background/Objectives</b>: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by pathogenic variants in the adenomatous polyposis coli (<i>APC</i>) gene. Its attenuated form (AFAP) is characterized by fewer colorectal polyps and later onset of colorectal cancer. We aime...

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Principais autores:	Giovanna Forte, Candida Fasano, Matteo Iacoviello, Valentina Grossi, Martina Lepore Signorile, Katia De Marco, Paola Sanese, Antonia Lucia Buonadonna, Andrea Manghisi, Nicoletta Maria Tutino, Vittoria Disciglio, Cristiano Simone
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2026-01-01
Serija:	Biomedicines
Teme:	Familial adenomatous polyposis (FAP) adenomatous polyposis coli (<i>APC</i>) gene germline DNA-RNA paired testing <i>APC</i> gene splicing variant <i>APC</i> gene truncating variant
Online dostop:	https://www.mdpi.com/2227-9059/14/1/87
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