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WFRF:(Mattsson Johanna S M)
 

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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004516naa a2200565 4500
001oai:DiVA.org:uu-429299
003SwePub
008201222s2021 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:145346090
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4292992 URI
0247 a https://doi.org/10.1038/s41418-020-00672-02 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1453460902 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Doffe, Flora4 aut
2451 0a Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene
264 c 2020-11-30
264 1b Springer Science and Business Media LLC,c 2021
338 a electronic2 rdacarrier
520 a Infrequent and rare genetic variants in the human population vastly outnumber common ones. Although they may contribute significantly to the genetic basis of a disease, these seldom-encountered variants may also be miss-identified as pathogenic if no correct references are available. Somatic and germline TP53 variants are associated with multiple neoplastic diseases, and thus have come to serve as a paradigm for genetic analyses in this setting. We searched 14 independent, globally distributed datasets and recovered TP53 SNPs from 202,767 cancer-free individuals. In our analyses, 19 new missense TP53 SNPs, including five novel variants specific to the Asian population, were recurrently identified in multiple datasets. Using a combination of in silico, functional, structural, and genetic approaches, we showed that none of these variants displayed loss of function compared to the normal TP53 gene. In addition, classification using ACMG criteria suggested that they are all benign. Considered together, our data reveal that the TP53 coding region shows far more polymorphism than previously thought and present high ethnic diversity. They furthermore underline the importance of correctly assessing novel variants in all variant-calling pipelines associated with genetic diagnoses for cancer.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng
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
653 a Patologi
653 a Pathology
7001 a Carbonnier, Vincent4 aut
7001 a Tissier, Manon4 aut
7001 a Leroy, Bernard4 aut
7001 a Martins, Isabelle4 aut
7001 a Mattsson, Johanna S. M.,d 1985-u Uppsala universitet,Klinisk och experimentell patologi,Patrick Micke4 aut0 (Swepub:uu)johma961
7001 a Micke, Patricku Uppsala universitet,Klinisk och experimentell patologi,Patrick Micke4 aut0 (Swepub:uu)patmi676
7001 a Pavlova, Sarka4 aut
7001 a Pospisilova, Sarka4 aut
7001 a Smardova, Jana4 aut
7001 a Joerger, Andreas C.4 aut
7001 a Wiman, Klas G.u Karolinska Institutet4 aut
7001 a Kroemer, Guido4 aut
7001 a Soussi, Thierryu Equipe Labellisée par la Ligue Contre le Cancer, Université Paris Descartes, Université Sorbonne Paris Cité, Université Paris Diderot, Sorbonne Université, INSERM U1138, Centre de Recherche des Cordeliers, Paris, France; Department of Oncology–Pathology, Bioclinicum, Karolinska Institutet, Stockholm, Sweden; Department of Life Science, Sorbonne Université, Paris, France4 aut0 (Swepub:uu)thiso574
7102 a Uppsala universitetb Klinisk och experimentell patologi4 org
7730 t Cell Death and Differentiationd : Springer Science and Business Media LLCg 28:5, s. 1477-1492q 28:5<1477-1492x 1350-9047x 1476-5403
8564 u https://doi.org/10.1038/s41418-020-00672-0y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1512269/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://www.nature.com/articles/s41418-020-00672-0.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-429299
8564 8u https://doi.org/10.1038/s41418-020-00672-0
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:145346090

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