Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: BMPR1A: 1327C>T; R443C; rs35619497
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Frontiers In Genetics
Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R
Publication Date: 2022
Variant appearance in text: BMPR1A: R443C; rs35619497
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Frontiers In Oncology
Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P
Publication Date: 2022
Variant appearance in text: BMPR1A: 1327C>T; Arg443Cys
Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.
Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Wentworth, Kelly L KL; Lalonde, Robert L RL; Groppe, Jay C JC; Brewer, Niambi N; Moody, Tania T; Hansberry, Steven S; Taylor, Kimberly E KE; Shore, Eileen M EM; Kaplan, Frederick S FS; Pignolo, Robert J RJ; Yelick, Pamela C PC; Hsiao, Edward C EC
Publication Date: 2022-11
Variant appearance in text: BMPR1A: 1327C>T; R443C; rs35619497
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
Publication Date: 2022-06
Variant appearance in text: BMPR1A: 1327C>T; R443C
The Role of Bone Morphogenetic Protein Signaling in Non-Alcoholic Fatty Liver Disease.
Scientific Reports
Thayer, Timothy E TE; Lino Cardenas, Christian L CL; Martyn, Trejeeve T; Nicholson, Christopher J CJ; Traeger, Lisa L; Wunderer, Florian F; Slocum, Charles C; Sigurslid, Haakon H; Shakartzi, Hannah R HR; O'Rourke, Caitlin C; Shelton, Georgia G; Buswell, Mary D MD; Barnes, Hanna H; Neitzel, Leif R LR; Ledsky, Clara D CD; Li, Jason Pingcheng JP; Burke, Megan F MF; Farber-Eger, Eric E; Perrien, Daniel S DS; Kumar, Ravindra R; Corey, Kathleen E KE; Wells, Quinn S QS; Bloch, Kenneth D KD; Hong, Charles C CC; Bloch, Donald B DB; Malhotra, Rajeev R
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10
Variant appearance in text: BMPR1A: 1327C>T; Arg443Cys
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.
The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
Publication Date: 2018-12-03
Variant appearance in text: BMPR1A: 1327C>T; R443C
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: BMPR1A: 1327C>T; Arg443Cys; rs35619497
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09
Variant appearance in text: BMPR1A: 1327C>T; Arg443Cys; rs35619497
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE
Publication Date: 2016-05-01
Variant appearance in text: BMPR1A: 1327C>T; Arg443Cys
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: BMPR1A: R443C; rs35619497
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Esteban-Jurado, Clara C; Vila-Casadesús, Maria M; Garre, Pilar P; Lozano, Juan José JJ; Pristoupilova, Anna A; Beltran, Sergi S; Muñoz, Jenifer J; Ocaña, Teresa T; Balaguer, Francesc F; López-Cerón, Maria M; Cuatrecasas, Miriam M; Franch-Expósito, Sebastià S; Piqué, Josep M JM; Castells, Antoni A; Carracedo, Angel A; Ruiz-Ponte, Clara C; Abulí, Anna A; Bessa, Xavier X; Andreu, Montserrat M; Bujanda, Luis L; Caldés, Trinidad T; Castellví-Bel, Sergi S
Publication Date: 2015-02
Variant appearance in text: BMPR1A: 1327C>T; R443C
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: BMPR1A: R443C; rs35619497