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2篇 您的检索式：作者名="Filomena Cariola"

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		题名	作者	年代	出处	被引量
	1	Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes显示文摘Familial adenomatous polyposis(FAP)and MUTYH-associ-ated polyposis(MAP)are colon cancer predisposition syn-dromes.FAP is an autosomal dominant inherited condition caused by germline mutations in the adenomatous polyposis coli(APC)gene and characterized by hundreds to thousands of colorectal adenomas.	Giovanna Forte Filomena Cariola Antonia Lucia Buonadonna Anna Filomena Guglielmi Andrea Manghisi Katia De Marco Valentina Grossi Candida Fasano Martina Lepore Signorile Paola Sanese Rosanna Bagnulo Nicoletta Resta b Vittoria Disciglio Cristiano Simone	2023	Genes & Diseases2023，10，4：	0
	2	A novel STK11 gene mutation (c.388dupG,p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170显示文摘Peutz-Jeghers syndrome(PJS)is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal(GI)hamartomatous polyposis and is associated with an increased risk of gastrointestinal,breast,gynecologic and other extra-GI malignancies.The serine/threonine kinase 11(STK11)gene has been identi-fied as a pathogenic factor in PJS.STK11 is a tumor sup-pressor gene located on chromosome 19p13.3 and includes 9 coding exons.1 The STK11 protein is composed of 433 amino acids(aa)and comprises a kinase catalytic region(aa 49e309)as well as N-and C-terminal regulatory domains.	Giovanna Forte Filomena Cariola Katia De Marco Andrea Manghisi Filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio	2022	Genes & Diseases2022，9，2：	0

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