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Sean V. Tavtigian
University of Utah
207Publications
57H-index
27.4kCitations
Publications 190
Newest
#1Mark Drost (EUR: Erasmus University Rotterdam)
#2Yvonne Tiersma (LUMC: Leiden University Medical Center)H-Index: 1
Last.Bryony A. Thompson (University of Melbourne)H-Index: 11
view all 16 authors...
Variants in the DNA mismatch repair (MMR) gene MSH6, identified in individuals suspected of Lynch syndrome, are difficult to classify owing to the low cancer penetrance of defects in that gene. This not only obfuscates personalized health care but also the development of a rapid and reliable classification procedure that does not require clinical data. The complete in vitro MMR activity (CIMRA) assay was calibrated against clinically classified MSH6 variants and, employing Bayes’ rule, integrate...
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#1Bryony A Thompson (HCI: Huntsman Cancer Institute)
#2Angela Snow (HCI: Huntsman Cancer Institute)H-Index: 2
Last.Sean V. Tavtigian (UofU: University of Utah)H-Index: 57
view all 13 authors...
Colorectal cancer (CRC) has a large hereditary component, which is only partially explained by known genetic causes. Recently, variants in ribosomal protein S20 (RPS20, [OMIM: 603682]) were identified in a family with familial CRC type X and in a CRC cancer case-control screen. This study describes a novel splice donor variant in RPS20, NM_001023.3:c.177+1G>A. It segregates with CRC [OMIM: 114500] and polyposis [HP: 0200063] within the proband9s family. Reverse transcription-polymerase chain rea...
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#1Colin C. Young (HCI: Huntsman Cancer Institute)
#2Bing Jian Feng (HCI: Huntsman Cancer Institute)H-Index: 27
Last.Sean V. Tavtigian (HCI: Huntsman Cancer Institute)H-Index: 57
view all 11 authors...
The American College of Medical Genetics and Genomics (ACMG) guidelines for sequence variant classification include two criteria, PP3 and BP4, for combining computational data with other evidence types contributing to sequence variant classification. PP3 and BP4 assert that computational modeling can provide Supporting evidence for or against pathogenicity within the ACMG framework. Here, leveraging a meta-analysis of ATM and CHEK2 breast cancer case-control mutation screening data, we evaluate ...
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#1Andreana N. Holowatyj (UofU: University of Utah)H-Index: 3
#2Biljana GigicH-Index: 6
Last.Sean V. TavtigianH-Index: 57
view all 33 authors...
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#1Alin Voskanian (UMBC: University of Maryland, Baltimore County)H-Index: 1
#2Panagiotis Katsonis (BCM: Baylor College of Medicine)H-Index: 13
Last.Maricel G. Kann (UMBC: University of Maryland, Baltimore County)H-Index: 20
view all 29 authors...
4 CitationsSource
#1Michael T. Parsons (QIMR: QIMR Berghofer Medical Research Institute)H-Index: 9
#2Emma Tudini (QIMR: QIMR Berghofer Medical Research Institute)H-Index: 2
Last.Amanda B. Spurdle (QIMR: QIMR Berghofer Medical Research Institute)H-Index: 65
view all 221 authors...
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene...
2 CitationsSource
#2Tong LiuH-Index: 32
Last.Douglas GrossmanH-Index: 38
view all 7 authors...
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#1Sarah E. Brnich (UNC: University of North Carolina at Chapel Hill)H-Index: 2
Last.Jonathan S. Berg (UNC: University of North Carolina at Chapel Hill)H-Index: 40
view all 15 authors...
Background: The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria (PS3/BS3) for functional assays that specified a 9strong9 level of evidence. However, they did not provide detailed guidance on how functional evidence should be evaluated, and differences in the application of the PS3/BS3 codes is a contributor to variant interpretation discordance between laboratories. This recommenda...
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#1Mark Drost (LUMC: Leiden University Medical Center)H-Index: 8
#2Yvonne Tiersma (LUMC: Leiden University Medical Center)H-Index: 1
Last.Sean V. Tavtigian (UofU: University of Utah)H-Index: 57
view all 22 authors...
To enhance classification of variants of uncertain significance (VUS) in the DNA mismatch repair (MMR) genes in the cancer predisposition Lynch syndrome, we developed the cell-free in vitro MMR activity (CIMRA) assay. Here, we calibrate and validate the assay, enabling its integration with in silico and clinical data. Two sets of previously classified MLH1 and MSH2 variants were selected from a curated MMR gene database, and their biochemical activity determined by the CIMRA assay. The assay was...
7 CitationsSource
#1Amanda B. Spurdle (QIMR: QIMR Berghofer Medical Research Institute)H-Index: 65
#2Stephanie Greville-Heygate (University of Southampton)H-Index: 2
Last.Diana Eccles (University of Southampton)H-Index: 74
view all 21 authors...
The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single genetic variants in silico, in vitro, in vivo and as a contributor to human disease use...
2 CitationsSource
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