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
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: MLH1: 112A>C; Asn38His
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Cell Reports. Medicine
Nair, Nishanth Ulhas NU; Jiang, Qun Q; Wei, Jun Stephen JS; Misra, Vikram Alexander VA; Morrow, Betsy B; Kesserwan, Chimene C; Hermida, Leandro C LC; Lee, Joo Sang JS; Mian, Idrees I; Zhang, Jingli J; Lebensohn, Alexandra A; Miettinen, Markku M; Sengupta, Manjistha M; Khan, Javed J; Ruppin, Eytan E; Hassan, Raffit R
Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas.
Journal Of Clinical Pathology
Suerink, Manon M; Kilinç, Gül G; Terlouw, Diantha D; Hristova, Hristina H; Sensuk, Lily L; van Egmond, Demi D; Farina Sarasqueta, Arantza A; Langers, Alexandra M J AMJ; van Wezel, Tom T; Morreau, Hans H; Nielsen, Maartje M; ,
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: MLH1: 112A>C; Asn38His
Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hechtman, Jaclyn F JF; Rana, Satshil S; Middha, Sumit S; Stadler, Zsofia K ZK; Latham, Alicia A; Benayed, Ryma R; Soslow, Robert R; Ladanyi, Marc M; Yaeger, Rona R; Zehir, Ahmet A; Shia, Jinru J
Publication Date: 2020-05
Variant appearance in text: MLH1: 112A>C; Asn38His
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 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
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
Bmj Open
Rosty, Christophe C; Clendenning, Mark M; Walsh, Michael D MD; Eriksen, Stine V SV; Southey, Melissa C MC; Winship, Ingrid M IM; Macrae, Finlay A FA; Boussioutas, Alex A; Poplawski, Nicola K NK; Parry, Susan S; Arnold, Julie J; Young, Joanne P JP; Casey, Graham G; Haile, Robert W RW; Gallinger, Steven S; Le Marchand, Loïc L; Newcomb, Polly A PA; Potter, John D JD; DeRycke, Melissa M; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Baron, John A JA; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD; ,
Publication Date: 2016-02-19
Variant appearance in text: MLH1: 112A>C; Asn38His
Characterization of novel low passage primary and metastatic colorectal cancer cell lines.
Oncotarget
Boot, Arnoud A; van Eendenburg, Jaap J; Crobach, Stijn S; Ruano, Dina D; Speetjens, Frank F; Calame, Jan J; Oosting, Jan J; Morreau, Hans H; van Wezel, Tom T
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
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Human Mutation
Thompson, Bryony A BA; Goldgar, David E DE; Paterson, Carol C; Clendenning, Mark M; Walters, Rhiannon R; Arnold, Sven S; Parsons, Michael T MT; Michael D, Walsh W; Gallinger, Steven S; Haile, Robert W RW; Hopper, John L JL; Jenkins, Mark A MA; Lemarchand, Loic L; Lindor, Noralane M NM; Newcomb, Polly A PA; Thibodeau, Stephen N SN; , ; Young, Joanne P JP; Buchanan, Daniel D DD; Tavtigian, Sean V SV; Spurdle, Amanda B AB
Publication Date: 2013-01
Variant appearance in text: MLH1: 112A>C; Asn38His
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.
Hereditary Cancer In Clinical Practice
van Riel, Els E; Ausems, Margreet Gem MG; Hogervorst, Frans Bl FB; Kluijt, Irma I; van Gijn, Marielle E ME; van Echtelt, Jeanne J; Scheidel-Jacobse, Karen K; Hennekam, Eric Fam EF; Stulp, Rein P RP; Vos, Yvonne J YJ; Offerhaus, G Johan A GJ; Menko, Fred H FH; Gille, Johan Jp JJ
Publication Date: 2010-08-12
Variant appearance in text: MLH1: 112A>C; Asn38His
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
British Journal Of Cancer
Gille, J J P JJ; Hogervorst, F B L FB; Pals, G G; Wijnen, J Th JT; van Schooten, R J RJ; Dommering, C J CJ; Meijer, G A GA; Craanen, M E ME; Nederlof, P M PM; de Jong, D D; McElgunn, C J CJ; Schouten, J P JP; Menko, F H FH