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Genes & Diseases 2022年第2期9卷 288-291页

作者： Giovanna Forte filomena cariola Katia De Marco Andrea Manghisi filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio Medical Genetics National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Histopathology Unit National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Department of General Surgery National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Gastroenterology and Digestive Endoscopy Unit National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Department of Biomedical Sciences and Human Oncology(DIMO) Medical GeneticsUniversity of Bari Aldo MoroPiazza Umberto IBari 70124Italy

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 *** serine/threonine kinase 11(STK11)gene has been identi-fied as a pathogenic factor in ***11 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.

关键词： STK11 Jeghers alterations

Corrigendum to ‘A novel STK11 gene mutation (c.388dupG,***130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107–170’ [Gene Dis (9) (2022) 288–291]

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Genes & Diseases 2024年第2期11卷 1082-1083页

作者： Giovanna Forte filomena cariola Katia De Marco Andrea Manghisi filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio Medical Genetics National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Histopathology Unit National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Department of General Surgery National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Gastroenterology and Digestive Endoscopy Unit National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Department of Biomedical Sciences and Human Oncology (DIMO) Medical Genetics University of Bari Aldo Moro Piazza Umberto I Bari 70124 Italy

Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis

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Genes & Diseases 2024年第6期11卷 12-15页

作者： Giovanna Forte Valentina Grossi filomena cariola Antonia Lucia Buonadonna Paola Sanese Katia De Marco Candida Fasano Martina Lepore Signorile Vittoria Disciglio Cristiano Simone Medical Genetics National Institute of Gastroenterology IRCCs"S.de Bellis"Research HospitalCastellana GrotteBari 70013Italy Medical Genetics Department of Precision and Regenerative Medicine and Jonic Area(DiMePRe-J)University of Bari Aldo MoroBari 70124Italy

Adenomatouspolyposis coli(APC)is akey tumor suppressor gene playing a central role in the Wnt signaling pathway throughβ-catenin down-regulation.1 APC germline pathogenic variants are associated with familial adenomatous polyposis(FAP),an autosomal dominant colorectal cancer(CRC)predisposition syndrome characterized by the development of hundreds to thousands of colorectal adenomatous polyps.

关键词： polyposis adenomatous familial

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes

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Genes & Diseases 2023年第4期10卷 1187-1189页

作者： 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 Medical Genetics National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Medical Genetics Department of Precision and Regenerative Medicine and Jonic Area(DiMePRe-J)University of Bari Aldo MoroBari 70124Italy

Familial adenomatous polyposis(FAP)and MUTYH-associ-ated polyposis(MAP)are colon cancer predisposition *** is an autosomal dominant inherited condition caused by germline mutations in the adenomatous polyposis coli(AP... 详细信息

关键词： polyposis adenomatous colon

Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023),1187–1189]

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Genes & Diseases 2024年第2期11卷 1084-1084页

作者： 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 Vittoria Disciglio Cristiano Simone Medical Genetics National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Medical Genetics Department of Precision and Regenerative Medicine and Jonic Area (DiMePRe-J) University of Bari Aldo Moro Bari 70124 Italy