APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Human Mutation
Rayner, Emily E; Tiersma, Yvonne Y; Fortuno, Cristina C; van Hees-Stuivenberg, Sandrine S; Drost, Mark M; Thompson, Bryony B; Spurdle, Amanda B AB; de Wind, Niels N
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: PMS2: 1789A>T; Thr597Ser; rs1805318
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020
Variant appearance in text: PMS2: 1789A>T; Thr597Ser
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: PMS2: 1789A>T; T597S; rs1805318
The functional landscape of the human phosphoproteome.
Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03
Variant appearance in text: PMS2: 1789A>T; Thr597Ser
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: PMS2: T597S; rs1805318
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Nature Communications
, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Identification of genetic variants for clinical management of familial colorectal tumors.
Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20
Variant appearance in text: PMS2: T597S; rs1805318
Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.
Molecular Oncology
Malgerud, Linnéa L; Lindberg, Johan J; Wirta, Valtteri V; Gustafsson-Liljefors, Maria M; Karimi, Masoud M; Moro, Carlos Fernández CF; Stecker, Katrin K; Picker, Alexander A; Huelsewig, Carolin C; Stein, Martin M; Bohnert, Regina R; Del Chiaro, Marco M; Haas, Stephan L SL; Heuchel, Rainer L RL; Permert, Johan J; Maeurer, Markus J MJ; Brock, Stephan S; Verbeke, Caroline S CS; Engstrand, Lars L; Jackson, David B DB; Grönberg, Henrik H; Löhr, Johannes Matthias JM
Publication Date: 2017-10
Variant appearance in text: PMS2: T597S; rs1805318
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: PMS2: T597S; rs1805318
Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ
Publication Date: 2016-05
Variant appearance in text: PMS2: 1789A>T; Thr597Ser; rs1805318
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: PMS2: T597S; rs1805318
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: PMS2: T597S; rs1805318
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
Clinical Genetics
Clendenning, M M; Macrae, F A FA; Walsh, M D MD; Walters, R J RJ; Thibodeau, S N SN; Gunawardena, S R SR; Potter, J D JD; Haile, R W RW; Gallinger, S S; , ; Hopper, J L JL; Jenkins, M A MA; Rosty, C C; Young, J P JP; Buchanan, D D DD
Publication Date: 2013-06
Variant appearance in text: PMS2: 1789A>T; Thr597Ser
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Human Mutation
Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV