High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics

Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. A diagnosis is typically made using colonoscopy, and geneti...

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Autores principales:	Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Nature Publishing Group 2024-12-01
Colección:	Human Genome Variation
Acceso en línea:	https://doi.org/10.1038/s41439-024-00301-z
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