Publications:

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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: P1581L

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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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: P1581L

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: NOTCH1: 4742C>T; P1581L

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics

González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M

Publication Date: 2020-04

Variant appearance in text: NOTCH1: 4742C>T; Pro1581Leu

PubMed Link: 31494577

Variant Present in the following documents:

• jmedgenet-2019-106272supp001.xlsx, sheet 9

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: NOTCH1: P1581L

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 20

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: P1581L

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

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Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Oncotarget

Margolskee, Elizabeth E; Jobanputra, Vaidehi V; Jain, Preti P; Chen, Jinli J; Ganapathi, Karthik K; Nahum, Odelia O; Levy, Brynn B; Morscio, Julie J; Murty, Vundavalli V; Tousseyn, Thomas T; Alobeid, Bachir B; Mansukhani, Mahesh M; Bhagat, Govind G

Publication Date: 2016-06-21

Variant appearance in text: NOTCH1: P1581L

PubMed Link: 27203213

Variant Present in the following documents:

• oncotarget-07-37636-s002.xlsx, sheet 1

View BVdb publication page

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Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Nature Communications

De Mattos-Arruda, Leticia L; Mayor, Regina R; Ng, Charlotte K Y CKY; Weigelt, Britta B; Martínez-Ricarte, Francisco F; Torrejon, Davis D; Oliveira, Mafalda M; Arias, Alexandra A; Raventos, Carolina C; Tang, Jiabin J; Guerini-Rocco, Elena E; Martínez-Sáez, Elena E; Lois, Sergio S; Marín, Oscar O; de la Cruz, Xavier X; Piscuoglio, Salvatore S; Towers, Russel R; Vivancos, Ana A; Peg, Vicente V; Ramon y Cajal, Santiago S; Carles, Joan J; Rodon, Jordi J; González-Cao, María M; Tabernero, Josep J; Felip, Enriqueta E; Sahuquillo, Joan J; Berger, Michael F MF; Cortes, Javier J; Reis-Filho, Jorge S JS; Seoane, Joan J

Publication Date: 2015-11-10

Variant appearance in text: NOTCH1: P1581L

PubMed Link: 26554728

Variant Present in the following documents:

• ncomms9839-s1.pdf
• ncomms9839-s3.xlsx, sheet 1

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: NOTCH1: P1581L

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s013.xlsx, sheet 4
• pone.0127146.s014.xlsx, sheet 2
• pone.0127146.s013.xlsx, sheet 1
• pone.0127146.s013.xlsx, sheet 3
• pone.0127146.s014.xlsx, sheet 4
• pone.0127146.s014.xlsx, sheet 1
• pone.0127146.s014.xlsx, sheet 3
• pone.0127146.s013.xlsx, sheet 2

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Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium.

Bmc Cancer

Tops, Bastiaan B J BB; Normanno, Nicola N; Kurth, Henriette H; Amato, Eliana E; Mafficini, Andrea A; Rieber, Nora N; Le Corre, Delphine D; Rachiglio, Anna Maria AM; Reiman, Anne A; Sheils, Orla O; Noppen, Christoph C; Lacroix, Ludovic L; Cree, Ian A IA; Scarpa, Aldo A; Ligtenberg, Marjolijn J L MJ; Laurent-Puig, Pierre P

Publication Date: 2015-01-31

Variant appearance in text: NOTCH1: Pro1581Leu

PubMed Link: 25637035

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1015.pdf

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: NOTCH1: P1581L

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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