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Rapid Communication | Open Access

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

Giovanna Fortea,1Valentina Grossia,1Filomena CariolaaAntonia Lucia BuonadonnaaPaola SaneseaKatia De MarcoaCandida FasanoaMartina Lepore SignorileaVittoria Disciglioa,#( )Cristiano Simonea,b,#( )
Medical Genetics, National Institute of Gastroenterology IRCCS “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

1 Co-first authors.

# Co-last authors.

Peer review under responsibility of Chongqing Medical University.

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References

1

Disciglio V, Fasano C, Cariola F, et al. Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3’-end. J Med Genet. 2020;57(5):356-360.

2
Disciglio V, Sanese P, Fasano C, et al. Identification and somatic characterization of the germline PTEN promoter variant rs34149102 in a family with gastrointestinal and breast tumors. Genes. 2022;13(4):644 (Basel).
3

Walon C, Kartheuser A, Michils G, et al. Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds. Hum Genet. 1997;100(5):601-605.

4

Preisler L, Habib A, Shapira G, et al. Heterozygous APC germline mutations impart predisposition to colorectal cancer. Sci Rep. 2021;11:5113.

5

García-Rodríguez R, Hiller M, Jiménez-Gracia L, et al. Premature termination codons in the DMD gene cause reduced local mRNA synthesis. Proc Natl Acad Sci U S A. 2020;117(28):16456-16464.

Genes & Diseases
Article number: 101078
Cite this article:
Forte G, Grossi V, Cariola F, et al. Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis. Genes & Diseases, 2024, 11(6): 101078. https://doi.org/10.1016/j.gendis.2023.101078

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Received: 29 May 2023
Published: 07 September 2023
© 2023 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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