Case report: Complete response of an anaplastic thyroid carcinoma patient with NRAS Q61R/BRAF D594N mutations to the triplet of dabrafenib, trametinib and PD-1 antibody.
Frontiers In Immunology
Gui, Lin L; Zhu, Yiming Y; Li, Xiaomo X; He, Xiaohui X; Ma, Tonghui T; Cai, Yi Y; Liu, Shaoyan S
Publication Date: 2023
Variant appearance in text: BRAF: 1782T>G; Asp594Glu
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRAF: 1782T>G; Asp594Glu
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29
Variant appearance in text: BRAF: 1782T>G; Asp594Glu
Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
Bjog : An International Journal Of Obstetrics And Gynaecology
Mellis, R R; Eberhardt, R Y RY; Hamilton, S J SJ; , ; McMullan, D J DJ; Kilby, M D MD; Maher, E R ER; Hurles, M E ME; Giordano, J L JL; Aggarwal, V V; Goldstein, D B DB; Wapner, R J RJ; Chitty, L S LS
Publication Date: 2022-01
Variant appearance in text: BRAF: 1782T>G; Asp594Glu
Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.
Jama Network Open
Zhao, Yiqing Y; Yu, Hanzhong H; Ida, Cris M CM; Halling, Kevin C KC; Kipp, Benjamin R BR; Geiersbach, Katherine K; Rumilla, Kandelaria M KM; Gupta, Sounak S; Lin, Ming-Tseh MT; Zheng, Gang G
BRAF in Lung Cancers: Analysis of Patient Cases Reveals Recurrent BRAF Mutations, Fusions, Kinase Duplications, and Concurrent Alterations.
Jco Precision Oncology
Sheikine, Yuri Y; Pavlick, Dean D; Klempner, Samuel J SJ; Trabucco, Sally E SE; Chung, Jon H JH; Rosenzweig, Mark M; Wang, Kai K; Velcheti, Vamsidhar V; Frampton, Garrett M GM; Peled, Nir N; Murray, Molly M; Chae, Young Kwang YK; Albacker, Lee A LA; Gay, Laurie L; Husain, Hatim H; Suh, James H JH; Millis, Sherri Z SZ; Reddy, Venkataprasanth P VP; Elvin, Julia A JA; Hartmaier, Ryan J RJ; Dowlati, Afshin A; Stephens, Phil P; Ross, Jeffrey S JS; Bivona, Trever G TG; Miller, Vincent A VA; Ganesan, Shridar S; Schrock, Alexa B AB; Ou, Sai-Hong Ignatius SI; Ali, Siraj M SM
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.
Journal Of Clinical Medicine
Colombino, Maria M; Paliogiannis, Panagiotis P; Cossu, Antonio A; De Re, Valli V; Miolo, Gianmaria G; Botti, Gerardo G; Scognamiglio, Giosuè G; Ascierto, Paolo Antonio PA; Santeufemia, Davide Adriano DA; Fraggetta, Filippo F; Manca, Antonella A; Sini, Maria Cristina MC; Casula, Milena M; Palomba, Grazia G; Pisano, Marina M; Doneddu, Valentina V; Lissia, Amelia A; Fedeli, Maria Antonietta MA; Palmieri, Giuseppe G
Mutation profiling of cancer drivers in Brazilian colorectal cancer.
Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.
Npj Precision Oncology
Brastianos, Priscilla K PK; Nayyar, Naema N; Rosebrock, Daniel D; Leshchiner, Ignaty I; Gill, Corey M CM; Livitz, Dimitri D; Bertalan, Mia S MS; D'Andrea, Megan M; Hoang, Kaitlin K; Aquilanti, Elisa E; Chukwueke, Ugonma N UN; Kaneb, Andrew A; Chi, Andrew A; Plotkin, Scott S; Gerstner, Elizabeth R ER; Frosch, Mathew P MP; Suva, Mario L ML; Cahill, Daniel P DP; Getz, Gad G; Batchelor, Tracy T TT
Complementary utility of targeted next-generation sequencing and immunohistochemistry panels as a screening platform to select targeted therapy for advanced gastric cancer.
Oncotarget
Kim, Hyo Song HS; Lee, Hanna H; Shin, Su-Jin SJ; Beom, Seung-Hoon SH; Jung, Minkyu M; Bae, Sujin S; Lee, Eun Young EY; Park, Kyu Hyun KH; Choi, Yoon Young YY; Son, Taeil T; Kim, Hyoung-Il HI; Cheong, Jae-Ho JH; Hyung, Woo Jin WJ; Park, Jun Chul JC; Shin, Sung Kwan SK; Lee, Sang Kil SK; Lee, Yong Chan YC; Koom, Woong Sub WS; Lim, Joon Seok JS; Chung, Hyun Cheol HC; Noh, Sung Hoon SH; Rha, Sun Young SY; Kim, Hyunki H; Paik, Soonmyung S
Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.
Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
NRAS and EPHB6 mutation rates differ in metastatic melanomas of patients in the North Island versus South Island of New Zealand.
Oncotarget
Jones, Angela M AM; Ferguson, Peter P; Gardner, Jacqui J; Rooker, Serena S; Sutton, Tim T; Ahn, Antonio A; Chatterjee, Aniruddha A; Bickley, Vivienne M VM; Sarwar, Makhdoom M; Emanuel, Patrick P; Kenwright, Diane D; Shepherd, Peter R PR; Eccles, Michael R MR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Profiling critical cancer gene mutations in clinical tumor samples.
Plos One
MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA