Sökning: (WFRF:(Hahnen Eric)) > Large scale multifa...
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000 | 07342naa a2200889 4500 | |
001 | oai:lup.lub.lu.se:6ac49438-147a-4d67-8b7b-e375a208b383 | |
003 | SwePub | |
008 | 190614s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/6ac49438-147a-4d67-8b7b-e375a208b3832 URI |
024 | 7 | a https://doi.org/10.1002/humu.238182 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Parsons, Michael Tu QIMR Berghofer Medical Research Institute4 aut |
245 | 1 0 | a Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification |
264 | 1 | b Hindawi Limited,c 2019 |
520 | a 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, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Tudini, Emmau QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Li, Hongyanu University of Utah4 aut |
700 | 1 | a Hahnen, Ericu University of Cologne4 aut |
700 | 1 | a Wappenschmidt, Barbarau University of Cologne4 aut |
700 | 1 | a Feliubadaló, Lidiau Catalan Institute of Oncology4 aut |
700 | 1 | a Aalfs, Cora M4 aut |
700 | 1 | a Agata, Simonau Veneto Institute of Oncology4 aut |
700 | 1 | a Aittomäki, Kristiinau University of Helsinki4 aut |
700 | 1 | a Alducci, Elisau Veneto Institute of Oncology4 aut |
700 | 1 | a Alonso-Cerezo, María Concepciónu Hospital Universitario de la Princesa4 aut |
700 | 1 | a Arnold, Norbertu University of Kiel4 aut |
700 | 1 | a Auber, Berndu Hannover Medical School4 aut |
700 | 1 | a Austin, Rachelu Royal Brisbane and Women's Hospital4 aut |
700 | 1 | a Azzollini, Jacopou Istituto Nazionale dei Tumori4 aut |
700 | 1 | a Balmaña, Judithu Vall d'Hebron University Hospital4 aut |
700 | 1 | a Barbieri, Elenau University of Modena and Reggio Emilia4 aut |
700 | 1 | a Bartram, Claus Ru University Hospital Heidelberg4 aut |
700 | 1 | a Blanco, Anau University of Santiago de Compostela4 aut |
700 | 1 | a Blümcke, Brittau University of Cologne4 aut |
700 | 1 | a Bonache, Sandrau Vall d’Hebron Institute of Oncology4 aut |
700 | 1 | a Bonanni, Bernardou European Institute of Oncology4 aut |
700 | 1 | a Borg, Åkeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-abo |
700 | 1 | a Bortesi, Beatriceu Parma University Hospital4 aut |
700 | 1 | a Brunet, Joanu Catalan Institute of Oncology4 aut |
700 | 1 | a Bruzzone, Carlau Ospedale Policlinico San Martino4 aut |
700 | 1 | a Bucksch, Karolinu Leipzig University4 aut |
700 | 1 | a Cagnoli, Giuliau Istituto Nazionale dei Tumori4 aut |
700 | 1 | a Caldés, Trinidadu Hospital Clinico San Carlos de Madrid4 aut |
700 | 1 | a Caliebe, Almuthu University of Kiel4 aut |
700 | 1 | a Caligo, Maria Au University Hospital of Pisa4 aut |
700 | 1 | a Calvello, Mariarosariau European Institute of Oncology4 aut |
700 | 1 | a Capone, Gabriele Lu University of Florence4 aut |
700 | 1 | a Caputo, Sandrine Mu PSL University4 aut |
700 | 1 | a Carnevali, Ileanau Ospedale di Circolo e Fondazione Macchi4 aut |
700 | 1 | a Carrasco, Estelau Vall d’Hebron Institute of Oncology4 aut |
700 | 1 | a Caux-Moncoutier, Virginieu Curie Institute, Paris4 aut |
700 | 1 | a Cavalli, Pietrou ASST di Cremona4 aut |
700 | 1 | a Cini, Giuliau CRO (Centro di Riferimento Oncologico) Aviano National Cancer Institute4 aut |
700 | 1 | a Clarke, Edward Mu QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Concolino, Paolau Policlinico Universitario Agostino Gemelli4 aut |
700 | 1 | a Cops, Elisa Ju Peter MacCallum Cancer Centre4 aut |
700 | 1 | a Cortesi, Laurau University of Modena and Reggio Emilia4 aut |
700 | 1 | a Couch, Fergus Ju Mayo Clinic Minnesota4 aut |
700 | 1 | a Darder, Estheru Catalan Institute of Oncology4 aut |
700 | 1 | a de la Hoya, Miguelu Hospital Clinico San Carlos de Madrid4 aut |
700 | 1 | a Dean, Michaelu National Cancer Institute, NCI4 aut |
700 | 1 | a Ehrencrona, Hansu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)med-hen |
700 | 1 | a Kvist, Andersu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)ekol-akv |
700 | 1 | a Törngren, Thereseu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-tsa |
710 | 2 | a QIMR Berghofer Medical Research Instituteb University of Utah4 org |
710 | 2 | a KConFab Investigators |
773 | 0 | t Human Mutationd : Hindawi Limitedg , s. 1557-1578q <1557-1578x 1059-7794x 1098-1004 |
856 | 4 | u http://dx.doi.org/10.1002/humu.23818x freey FULLTEXT |
856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23818 |
856 | 4 8 | u https://lup.lub.lu.se/record/6ac49438-147a-4d67-8b7b-e375a208b383 |
856 | 4 8 | u https://doi.org/10.1002/humu.23818 |
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