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Sökning: (WFRF:(Ehrencrona Hans)) pers:(Bonanni Bernardo) > (2019) > Large scale multifa...

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FältnamnIndikatorerMetadata
00007342naa a2200889 4500
001oai:lup.lub.lu.se:6ac49438-147a-4d67-8b7b-e375a208b383
003SwePub
008190614s2019 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/6ac49438-147a-4d67-8b7b-e375a208b3832 URI
0247 a https://doi.org/10.1002/humu.238182 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Parsons, Michael Tu QIMR Berghofer Medical Research Institute4 aut
2451 0a Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Tudini, Emmau QIMR Berghofer Medical Research Institute4 aut
7001 a Li, Hongyanu University of Utah4 aut
7001 a Hahnen, Ericu University of Cologne4 aut
7001 a Wappenschmidt, Barbarau University of Cologne4 aut
7001 a Feliubadaló, Lidiau Catalan Institute of Oncology4 aut
7001 a Aalfs, Cora M4 aut
7001 a Agata, Simonau Veneto Institute of Oncology4 aut
7001 a Aittomäki, Kristiinau University of Helsinki4 aut
7001 a Alducci, Elisau Veneto Institute of Oncology4 aut
7001 a Alonso-Cerezo, María Concepciónu Hospital Universitario de la Princesa4 aut
7001 a Arnold, Norbertu University of Kiel4 aut
7001 a Auber, Berndu Hannover Medical School4 aut
7001 a Austin, Rachelu Royal Brisbane and Women's Hospital4 aut
7001 a Azzollini, Jacopou Istituto Nazionale dei Tumori4 aut
7001 a Balmaña, Judithu Vall d'Hebron University Hospital4 aut
7001 a Barbieri, Elenau University of Modena and Reggio Emilia4 aut
7001 a Bartram, Claus Ru University Hospital Heidelberg4 aut
7001 a Blanco, Anau University of Santiago de Compostela4 aut
7001 a Blümcke, Brittau University of Cologne4 aut
7001 a Bonache, Sandrau Vall d’Hebron Institute of Oncology4 aut
7001 a Bonanni, Bernardou European Institute of Oncology4 aut
7001 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
7001 a Bortesi, Beatriceu Parma University Hospital4 aut
7001 a Brunet, Joanu Catalan Institute of Oncology4 aut
7001 a Bruzzone, Carlau Ospedale Policlinico San Martino4 aut
7001 a Bucksch, Karolinu Leipzig University4 aut
7001 a Cagnoli, Giuliau Istituto Nazionale dei Tumori4 aut
7001 a Caldés, Trinidadu Hospital Clinico San Carlos de Madrid4 aut
7001 a Caliebe, Almuthu University of Kiel4 aut
7001 a Caligo, Maria Au University Hospital of Pisa4 aut
7001 a Calvello, Mariarosariau European Institute of Oncology4 aut
7001 a Capone, Gabriele Lu University of Florence4 aut
7001 a Caputo, Sandrine Mu PSL University4 aut
7001 a Carnevali, Ileanau Ospedale di Circolo e Fondazione Macchi4 aut
7001 a Carrasco, Estelau Vall d’Hebron Institute of Oncology4 aut
7001 a Caux-Moncoutier, Virginieu Curie Institute, Paris4 aut
7001 a Cavalli, Pietrou ASST di Cremona4 aut
7001 a Cini, Giuliau CRO (Centro di Riferimento Oncologico) Aviano National Cancer Institute4 aut
7001 a Clarke, Edward Mu QIMR Berghofer Medical Research Institute4 aut
7001 a Concolino, Paolau Policlinico Universitario Agostino Gemelli4 aut
7001 a Cops, Elisa Ju Peter MacCallum Cancer Centre4 aut
7001 a Cortesi, Laurau University of Modena and Reggio Emilia4 aut
7001 a Couch, Fergus Ju Mayo Clinic Minnesota4 aut
7001 a Darder, Estheru Catalan Institute of Oncology4 aut
7001 a de la Hoya, Miguelu Hospital Clinico San Carlos de Madrid4 aut
7001 a Dean, Michaelu National Cancer Institute, NCI4 aut
7001 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
7001 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
7001 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
7102 a QIMR Berghofer Medical Research Instituteb University of Utah4 org
7102 a KConFab Investigators
7730 t Human Mutationd : Hindawi Limitedg , s. 1557-1578q <1557-1578x 1059-7794x 1098-1004
8564 u http://dx.doi.org/10.1002/humu.23818x freey FULLTEXT
8564 u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23818
8564 8u https://lup.lub.lu.se/record/6ac49438-147a-4d67-8b7b-e375a208b383
8564 8u https://doi.org/10.1002/humu.23818

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