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https://repository.monashhealth.org/monashhealthjspui/handle/1/28906| Title: | PALB2 Genetic Variants: Can Functional Assays Assist Translation?. | Authors: | Southey M.C.;Nguyen-Dumont T.;Rewse A. | Monash Health Department(s): | Monash University - School of Clinical Sciences at Monash Health | 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, Australia | Issue Date: | 24-Mar-2020 | Copyright year: | 2020 | Publisher: | Cell Press (E-mail: subs@cell.com) | Place of publication: | United States | Publication information: | Trends in Cancer. 6 (4) (pp 263-265), 2020. Date of Publication: April 2020. | Journal: | Trends in Cancer | Abstract: | PALB2 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. | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.trecan.2020.01.017 | PubMed URL: | 32209438 [http://www.ncbi.nlm.nih.gov/pubmed/?term=32209438] | ISSN: | 2405-8033 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/28906 | Type: | Short Survey | Subjects: | DNA repair amino terminal sequence *assay breast cancer/et [Etiology] cancer risk carboxy terminal sequence DNA damage response *genetic variability human ionizing radiation ovary cancer priority journal protein binding short survey BRCA1 protein/ec [Endogenous Compound] double stranded DNA/ec [Endogenous Compound] *partner and localizer of BRCA2/ec [Endogenous Compound] Rad51 protein/ec [Endogenous Compound] *functional assay *missense variant DNA repair amino terminal sequence assay breast cancer cancer risk carboxy terminal sequence DNA damage response genetic variability ionizing radiation ovary cancer protein binding short survey BRCA1 protein double stranded DNA partner and localizer of BRCA2 Rad51 protein functional assay missense variant *assay amino terminal sequence DNA repair *genetic variability human breast cancer / etiology ovary cancer priority journal protein binding Short Survey ionizing radiation cancer risk carboxy terminal sequence DNA damage response |
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