Publications:

Case Report: MAP2K1 K57N mutation is associated with primary resistance to anti-EGFR monoclonal antibodies in metastatic colorectal cancer.

Frontiers In Oncology

Mauri, Gianluca G; Patelli, Giorgio G; Gori, Viviana V; Lauricella, Calogero C; Mussolin, Benedetta B; Amatu, Alessio A; Bencardino, Katia K; Tosi, Federica F; Bonazzina, Erica E; Bonoldi, Emanuela E; Bardelli, Alberto A; Siena, Salvatore S; Sartore-Bianchi, Andrea A

Publication Date: 2022

Variant appearance in text: NOTCH1: G2243S

PubMed Link: 36419886

Variant Present in the following documents:

• Main text
• fonc-12-1030232.pdf

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Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Journal Of Translational Medicine

Ponińska, Joanna Kinga JK; Bilińska, Zofia Teresa ZT; Truszkowska, Grażyna G; Michalak, Ewa E; Podgórska, Anna A; Stępień-Wojno, Małgorzata M; Chmielewski, Przemysław P; Lutyńska, Anna A; Płoski, Rafał R

Publication Date: 2022-01-25

Variant appearance in text: NOTCH1: 6727G>A; Gly2243Ser

PubMed Link: 35078481

Variant Present in the following documents:

• 12967_2022_3251_MOESM1_ESM.pdf

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: G2243S

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: NOTCH1: G2243S

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: NOTCH1: G2243S; rs61751491

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

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