Publications:

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: APC: 1742A>G; Lys581Arg

PubMed Link: 35495172

Variant Present in the following documents:

• fgene-13-858396.pdf

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: APC: K581R

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

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APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.

Genes

Disciglio, Vittoria V; Forte, Giovanna G; Fasano, Candida C; Sanese, Paola P; Lepore Signorile, Martina M; De Marco, Katia K; Grossi, Valentina V; Cariola, Filomena F; Simone, Cristiano C

Publication Date: 2021-02-28

Variant appearance in text: APC: 1742A>G

PubMed Link: 33670833

Variant Present in the following documents:

• Main text
• genes-12-00353.pdf

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice

Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2005-09-15

Variant appearance in text: APC: 1742A>G; Lys581Arg

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

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Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

The Journal Of Molecular Diagnostics : Jmd

Kaufmann, Astrid A; Vogt, Stefanie S; Uhlhaas, Siegfried S; Stienen, Dietlinde D; Kurth, Ingo I; Hameister, Horst H; Mangold, Elisabeth E; Kötting, Judith J; Kaminsky, Elke E; Propping, Peter P; Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2009-03

Variant appearance in text: APC: 1742A>G; Lys581Arg

PubMed Link: 19196998

Variant Present in the following documents:

• Main text

View BVdb publication page