High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
Scientific Reports
Bacchelli, Elena E; Cameli, Cinzia C; Viggiano, Marta M; Igliozzi, Roberta R; Mancini, Alice A; Tancredi, Raffaella R; Battaglia, Agatino A; Maestrini, Elena E
Publication Date: 2020-02-21
Variant appearance in text: MTOR: A329T; rs35903812
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: MTOR: 985G>A; Ala329Thr; rs35903812
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: MTOR: A329T; rs35903812
Genomic characterisation of Eμ-Myc mouse lymphomas identifies Bcor as a Myc co-operative tumour-suppressor gene.
Nature Communications
Lefebure, Marcus M; Tothill, Richard W RW; Kruse, Elizabeth E; Hawkins, Edwin D ED; Shortt, Jake J; Matthews, Geoffrey M GM; Gregory, Gareth P GP; Martin, Benjamin P BP; Kelly, Madison J MJ; Todorovski, Izabela I; Doyle, Maria A MA; Lupat, Richard R; Li, Jason J; Schroeder, Jan J; Wall, Meaghan M; Craig, Stuart S; Poortinga, Gretchen G; Cameron, Don D; Bywater, Megan M; Kats, Lev L; Gearhart, Micah D MD; Bardwell, Vivian J VJ; Dickins, Ross A RA; Hannan, Ross D RD; Papenfuss, Anthony T AT; Johnstone, Ricky W RW
Publication Date: 2017-03-06
Variant appearance in text: MTOR: 985G>A; Ala329Thr
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: MTOR: 985G>A; Ala329Thr
Next generation sequencing of exceptional responders with BRAF-mutant melanoma: implications for sensitivity and resistance.
Bmc Cancer
Wheler, Jennifer J; Yelensky, Roman R; Falchook, Gerald G; Kim, Kevin B KB; Hwu, Patrick P; Tsimberidou, Apostolia M AM; Stephens, Philip J PJ; Hong, David D; Cronin, Maureen T MT; Kurzrock, Razelle R
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: MTOR: A329T; rs35903812