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Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/28906
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dc.contributor.authorSouthey M.C.en
dc.contributor.authorNguyen-Dumont T.en
dc.contributor.authorRewse A.en
dc.date.accessioned2021-05-14T09:44:36Zen
dc.date.available2021-05-14T09:44:36Zen
dc.date.copyright2020en
dc.date.created20200324en
dc.date.issued2020-03-24en
dc.identifier.citationTrends in Cancer. 6 (4) (pp 263-265), 2020. Date of Publication: April 2020.en
dc.identifier.issn2405-8033en
dc.identifier.urihttps://repository.monashhealth.org/monashhealthjspui/handle/1/28906en
dc.description.abstractPALB2 loss-of-function variants are associated with increased risk of breast and other cancers, but the clinical relevance of missense variants (MVs) remains uncertain. Recent findings reported by Wiltshire et al., Rodrigue et al., and Boonen et al. demonstrate that some MVs disrupt PALB2 function. This new information will support the clinical management of families who carry these MVs and inform their treatment.Copyright © 2020 Elsevier Inc.en
dc.languageEnglishen
dc.languageenen
dc.publisherCell Press (E-mail: subs@cell.com)en
dc.relation.ispartofTrends in Cancer-
dc.subject.meshDNA repair-
dc.subject.meshamino terminal sequence-
dc.subject.meshassay-
dc.subject.meshbreast cancer-
dc.subject.meshcancer risk-
dc.subject.meshcarboxy terminal sequence-
dc.subject.meshDNA damage response-
dc.subject.meshgenetic variability-
dc.subject.meshionizing radiation-
dc.subject.meshovary cancer-
dc.subject.meshprotein binding-
dc.subject.meshshort survey-
dc.subject.meshBRCA1 protein-
dc.subject.meshdouble stranded DNA-
dc.subject.meshpartner and localizer of BRCA2-
dc.subject.meshRad51 protein-
dc.subject.meshfunctional assay-
dc.subject.meshmissense variant-
dc.titlePALB2 Genetic Variants: Can Functional Assays Assist Translation?.en
dc.typeShort Surveyen
dc.identifier.affiliationMonash University - School of Clinical Sciences at Monash Health-
dc.identifier.doihttp://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.trecan.2020.01.017-
dc.publisher.placeUnited Statesen
dc.identifier.pubmedid32209438 [http://www.ncbi.nlm.nih.gov/pubmed/?term=32209438]en
dc.identifier.source2004925022en
dc.identifier.institution(Southey, Rewse, Nguyen-Dumont) Precision Medicine, School of Clinical Science at Monash Health, Monash University Clayton, VIC 3168, Australia (Southey, Nguyen-Dumont) Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia (Southey) Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC 3004, Australiaen
dc.description.addressM.C. Southey, Precision Medicine, School of Clinical Science at Monash Health, Monash University Clayton, VIC 3168, Australia. E-mail: melissa.southey@monash.eduen
dc.description.publicationstatusEmbaseen
dc.rights.statementCopyright 2020 Elsevier B.V., All rights reserved.en
dc.subect.keywordscancer risk functional assays genetic testing missense variants PALB2en
dc.identifier.authoremailSouthey M.C.; melissa.southey@monash.eduen
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairetypeShort Survey-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
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