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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: pesaran t. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Somatic TP53 variants frequently confound germ-line testing results.
Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K. Weitzel JN, et al. Among authors: pesaran t. Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30. Genet Med. 2018. PMID: 29189820 Free PMC article.
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). Abou Tayoun AN, et al. Among authors: pesaran t. Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7. Hum Mutat. 2018. PMID: 30192042 Free PMC article.
A Bayesian framework for efficient and accurate variant prediction.
Qian D, Li S, Tian Y, Clifford JW, Sarver BAJ, Pesaran T, Gau CL, Elliott AM, Lu HM, Black MH. Qian D, et al. Among authors: pesaran t. PLoS One. 2018 Sep 13;13(9):e0203553. doi: 10.1371/journal.pone.0203553. eCollection 2018. PLoS One. 2018. PMID: 30212499 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Lee K, et al. Among authors: pesaran t. Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650. Hum Mutat. 2018. PMID: 30311375 Free PMC article.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A; kConFab Investigators; Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M. Lopez-Perolio I, et al. Among authors: pesaran t. J Med Genet. 2019 Jul;56(7):453-460. doi: 10.1136/jmedgenet-2018-105834. Epub 2019 Mar 19. J Med Genet. 2019. PMID: 30890586 Free PMC article.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE. Li H, et al. Among authors: pesaran t. Genet Med. 2020 Apr;22(4):701-708. doi: 10.1038/s41436-019-0729-1. Epub 2019 Dec 19. Genet Med. 2020. PMID: 31853058 Free PMC article.
66 results