FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022681712> ?p ?o ?g. }

• W2022681712 abstract "PALB2 1592delT mutation is associated with increased breast cancer and suggestive prostate cancer (PRCA) risk in Finland. In this study we wanted to assess if any other PALB2 variants associate to increased PRCA risk and clinically describe patients with formerly found PALB2 1592delT mutation.Finnish families with two or more PRCA cases (n = 178) and unselected cases (n = 285) with complete clinical data were initially screened for variants in the coding region and splice sites of PALB2. Potentially interesting variants were verified in additional set of unselected cases (n = 463).From our clinically defined sample set we identified total of six variants in PALB2. No novel variants among Finnish PRCA cases were found. Clinical characteristics of the variant carriers, including the previously described family carrying PALB2 1592delT, revealed a trend towards aggressive disease, which also applied to a few non-familial cases. Hypersensitivity to mitomycin C (MMC) of lymphoblasts from individuals from the family with 1592delT revealed haploinsufficiency among carriers with altered genotype.Though any of the detected PALB2 variants do not associate to PRCA in population level in Finland it cannot be ruled out that some of these variants contribute to cancer susceptibility at individual level." @default.
• W2022681712 created "2016-06-24" @default.
• W2022681712 creator A5001042894 @default.
• W2022681712 creator A5008878524 @default.
• W2022681712 creator A5023459760 @default.
• W2022681712 creator A5045173182 @default.
• W2022681712 creator A5073976193 @default.
• W2022681712 creator A5076869586 @default.
• W2022681712 creator A5082556049 @default.
• W2022681712 date "2009-12-01" @default.
• W2022681712 modified "2023-09-25" @default.
• W2022681712 title "PALB2 variants in hereditary and unselected Finnish Prostate cancer cases" @default.
• W2022681712 cites W1547443377 @default.
• W2022681712 cites W1571891420 @default.
• W2022681712 cites W1965607924 @default.
• W2022681712 cites W1966560565 @default.
• W2022681712 cites W1969513645 @default.
• W2022681712 cites W1969962178 @default.
• W2022681712 cites W1976388216 @default.
• W2022681712 cites W1985479373 @default.
• W2022681712 cites W1986201328 @default.
• W2022681712 cites W1999140678 @default.
• W2022681712 cites W2002150942 @default.
• W2022681712 cites W2009454156 @default.
• W2022681712 cites W2034702779 @default.
• W2022681712 cites W2060516416 @default.
• W2022681712 cites W2081628690 @default.
• W2022681712 cites W2087025655 @default.
• W2022681712 cites W2098311021 @default.
• W2022681712 cites W2108860692 @default.
• W2022681712 cites W2111659024 @default.
• W2022681712 cites W2114552084 @default.
• W2022681712 cites W2114564608 @default.
• W2022681712 cites W2132900617 @default.
• W2022681712 cites W2169438923 @default.
• W2022681712 doi "https://doi.org/10.1186/1477-5751-8-12" @default.
• W2022681712 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2806404" @default.
• W2022681712 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20003494" @default.
• W2022681712 hasPublicationYear "2009" @default.
• W2022681712 type Work @default.
• W2022681712 sameAs 2022681712 @default.
• W2022681712 citedByCount "21" @default.
• W2022681712 countsByYear W20226817122012 @default.
• W2022681712 countsByYear W20226817122013 @default.
• W2022681712 countsByYear W20226817122014 @default.
• W2022681712 countsByYear W20226817122015 @default.
• W2022681712 countsByYear W20226817122016 @default.
• W2022681712 countsByYear W20226817122017 @default.
• W2022681712 countsByYear W20226817122018 @default.
• W2022681712 countsByYear W20226817122020 @default.
• W2022681712 countsByYear W20226817122021 @default.
• W2022681712 countsByYear W20226817122022 @default.
• W2022681712 countsByYear W20226817122023 @default.
• W2022681712 crossrefType "journal-article" @default.
• W2022681712 hasAuthorship W2022681712A5001042894 @default.
• W2022681712 hasAuthorship W2022681712A5008878524 @default.
• W2022681712 hasAuthorship W2022681712A5023459760 @default.
• W2022681712 hasAuthorship W2022681712A5045173182 @default.
• W2022681712 hasAuthorship W2022681712A5073976193 @default.
• W2022681712 hasAuthorship W2022681712A5076869586 @default.
• W2022681712 hasAuthorship W2022681712A5082556049 @default.
• W2022681712 hasBestOaLocation W20226817121 @default.
• W2022681712 hasConcept C104317684 @default.
• W2022681712 hasConcept C121608353 @default.
• W2022681712 hasConcept C126322002 @default.
• W2022681712 hasConcept C13514818 @default.
• W2022681712 hasConcept C135763542 @default.
• W2022681712 hasConcept C143998085 @default.
• W2022681712 hasConcept C2778144015 @default.
• W2022681712 hasConcept C2779134260 @default.
• W2022681712 hasConcept C2780192828 @default.
• W2022681712 hasConcept C2908647359 @default.
• W2022681712 hasConcept C501734568 @default.
• W2022681712 hasConcept C530470458 @default.
• W2022681712 hasConcept C54355233 @default.
• W2022681712 hasConcept C71924100 @default.
• W2022681712 hasConcept C86803240 @default.
• W2022681712 hasConcept C99454951 @default.
• W2022681712 hasConceptScore W2022681712C104317684 @default.
• W2022681712 hasConceptScore W2022681712C121608353 @default.
• W2022681712 hasConceptScore W2022681712C126322002 @default.
• W2022681712 hasConceptScore W2022681712C13514818 @default.
• W2022681712 hasConceptScore W2022681712C135763542 @default.
• W2022681712 hasConceptScore W2022681712C143998085 @default.
• W2022681712 hasConceptScore W2022681712C2778144015 @default.
• W2022681712 hasConceptScore W2022681712C2779134260 @default.
• W2022681712 hasConceptScore W2022681712C2780192828 @default.
• W2022681712 hasConceptScore W2022681712C2908647359 @default.
• W2022681712 hasConceptScore W2022681712C501734568 @default.
• W2022681712 hasConceptScore W2022681712C530470458 @default.
• W2022681712 hasConceptScore W2022681712C54355233 @default.
• W2022681712 hasConceptScore W2022681712C71924100 @default.
• W2022681712 hasConceptScore W2022681712C86803240 @default.
• W2022681712 hasConceptScore W2022681712C99454951 @default.
• W2022681712 hasIssue "1" @default.
• W2022681712 hasLocation W20226817121 @default.
• W2022681712 hasLocation W20226817122 @default.
• W2022681712 hasLocation W20226817123 @default.
• W2022681712 hasLocation W20226817124 @default.
• W2022681712 hasOpenAccess W2022681712 @default.

• next