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
Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17
Variant appearance in text: MSH6: 3469G>A; Gly1157Ser; rs587779264
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
Frontiers In Medicine
Nunziato, Marcella M; Di Maggio, Federica F; Pensabene, Matilde M; Esposito, Maria Valeria MV; Starnone, Flavio F; De Angelis, Carmine C; Calabrese, Alessandra A; D'Aiuto, Massimiliano M; Botti, Gerardo G; De Placido, Sabino S; D'Argenio, Valeria V; Salvatore, Francesco F
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: MSH6: 3469G>A; Gly1157Ser
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Buchanan, Daniel D DD; Tan, Yen Y YY; Walsh, Michael D MD; Clendenning, Mark M; Metcalf, Alexander M AM; Ferguson, Kaltin K; Arnold, Sven T ST; Thompson, Bryony A BA; Lose, Felicity A FA; Parsons, Michael T MT; Walters, Rhiannon J RJ; Pearson, Sally-Ann SA; Cummings, Margaret M; Oehler, Martin K MK; Blomfield, Penelope B PB; Quinn, Michael A MA; Kirk, Judy A JA; Stewart, Colin J CJ; Obermair, Andreas A; Young, Joanne P JP; Webb, Penelope M PM; Spurdle, Amanda B AB
Publication Date: 2014-01-10
Variant appearance in text: MSH6: 3469G>A; Gly1157Ser