Matches in SemOpenAlex for { <https://semopenalex.org/work/W2117352871> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2117352871 endingPage "107" @default.
- W2117352871 startingPage "107e" @default.
- W2117352871 abstract "Affected individuals from 431 families gave blood for mutational analysis in BRCA1 and BRCA2 mainly to develop genetic tests for their family. Individuals were eligible if there was at least a 50% chance of a gene predisposing to breast cancer (not necessarily BRCA1/2 ) in their family. Assessment was made using the Cancer and Steroid Hormone (CASH) dataset and the Claus curves.1,2 A minimal requirement was two close relatives with breast cancer before the age of 50 years, but combinations of male and female breast cancer, and breast and ovarian cancer were particularly identified. An exception to this were two research projects where population based cases of breast cancer before the age of 31 years3 and sporadic breast cancer before the age of 36 years4 were screened for both genes. Male breast cancer (MBC) families presenting to the clinic with at least one MBC before the age of 60 years or at any age if female breast cancer had occurred were screened for BRCA2 .5Initial screening for mutations involved a whole gene assessment using single strand conformational polymorphism (SSCP) analysis and protein truncation testing (PTT) of exon 11 in each gene. All mutations were confirmed, in both orientations, by direct fluorescent sequencing of the appropriate exon. We excluded one exon 13 duplication and two exonic deletions detected on screening 95 BRCA1 negative breast/ovarian families. A further two exon 13 duplications in five subsequent BRCA1 negative breast/ovary families originating from east of the Pennines were also excluded. Of the non large-scale rearrangement mutations, 26/78 (33%) were detected outside the commonly screened regions of BRCA1 (exons 2, 11, 20) in the UK (table 1). Similarly 15/50 (30%) BRCA2 mutations were detected outside exons 10 and 11.View this table: Table 1 Mutations in BRCA1/2 outside the commonly screened exons in the UK …" @default.
- W2117352871 created "2016-06-24" @default.
- W2117352871 creator A5005377011 @default.
- W2117352871 creator A5044522745 @default.
- W2117352871 creator A5065103918 @default.
- W2117352871 creator A5073619557 @default.
- W2117352871 creator A5087003938 @default.
- W2117352871 date "2003-09-01" @default.
- W2117352871 modified "2023-10-16" @default.
- W2117352871 title "Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families" @default.
- W2117352871 cites W162286829 @default.
- W2117352871 cites W1975776759 @default.
- W2117352871 cites W1976428492 @default.
- W2117352871 cites W1980540383 @default.
- W2117352871 cites W19873900 @default.
- W2117352871 cites W2006356685 @default.
- W2117352871 cites W2074844264 @default.
- W2117352871 cites W2089797982 @default.
- W2117352871 cites W2098652713 @default.
- W2117352871 cites W2103970959 @default.
- W2117352871 cites W2113926943 @default.
- W2117352871 cites W2148263950 @default.
- W2117352871 cites W2148527784 @default.
- W2117352871 cites W2154179174 @default.
- W2117352871 cites W2164895534 @default.
- W2117352871 cites W2166515403 @default.
- W2117352871 doi "https://doi.org/10.1136/jmg.40.9.e107" @default.
- W2117352871 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1735589" @default.
- W2117352871 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12960223" @default.
- W2117352871 hasPublicationYear "2003" @default.
- W2117352871 type Work @default.
- W2117352871 sameAs 2117352871 @default.
- W2117352871 citedByCount "14" @default.
- W2117352871 countsByYear W21173528712012 @default.
- W2117352871 crossrefType "journal-article" @default.
- W2117352871 hasAuthorship W2117352871A5005377011 @default.
- W2117352871 hasAuthorship W2117352871A5044522745 @default.
- W2117352871 hasAuthorship W2117352871A5065103918 @default.
- W2117352871 hasAuthorship W2117352871A5073619557 @default.
- W2117352871 hasAuthorship W2117352871A5087003938 @default.
- W2117352871 hasBestOaLocation W21173528711 @default.
- W2117352871 hasConcept C104317684 @default.
- W2117352871 hasConcept C121608353 @default.
- W2117352871 hasConcept C126322002 @default.
- W2117352871 hasConcept C127413603 @default.
- W2117352871 hasConcept C143998085 @default.
- W2117352871 hasConcept C21200559 @default.
- W2117352871 hasConcept C24326235 @default.
- W2117352871 hasConcept C2780427987 @default.
- W2117352871 hasConcept C2780673598 @default.
- W2117352871 hasConcept C501734568 @default.
- W2117352871 hasConcept C530470458 @default.
- W2117352871 hasConcept C54355233 @default.
- W2117352871 hasConcept C71924100 @default.
- W2117352871 hasConcept C86803240 @default.
- W2117352871 hasConceptScore W2117352871C104317684 @default.
- W2117352871 hasConceptScore W2117352871C121608353 @default.
- W2117352871 hasConceptScore W2117352871C126322002 @default.
- W2117352871 hasConceptScore W2117352871C127413603 @default.
- W2117352871 hasConceptScore W2117352871C143998085 @default.
- W2117352871 hasConceptScore W2117352871C21200559 @default.
- W2117352871 hasConceptScore W2117352871C24326235 @default.
- W2117352871 hasConceptScore W2117352871C2780427987 @default.
- W2117352871 hasConceptScore W2117352871C2780673598 @default.
- W2117352871 hasConceptScore W2117352871C501734568 @default.
- W2117352871 hasConceptScore W2117352871C530470458 @default.
- W2117352871 hasConceptScore W2117352871C54355233 @default.
- W2117352871 hasConceptScore W2117352871C71924100 @default.
- W2117352871 hasConceptScore W2117352871C86803240 @default.
- W2117352871 hasIssue "9" @default.
- W2117352871 hasLocation W21173528711 @default.
- W2117352871 hasLocation W21173528712 @default.
- W2117352871 hasLocation W21173528713 @default.
- W2117352871 hasLocation W21173528714 @default.
- W2117352871 hasOpenAccess W2117352871 @default.
- W2117352871 hasPrimaryLocation W21173528711 @default.
- W2117352871 hasRelatedWork W1979408983 @default.
- W2117352871 hasRelatedWork W2023425329 @default.
- W2117352871 hasRelatedWork W2155001631 @default.
- W2117352871 hasRelatedWork W2224319365 @default.
- W2117352871 hasRelatedWork W2274053476 @default.
- W2117352871 hasRelatedWork W3000291420 @default.
- W2117352871 hasRelatedWork W3187221127 @default.
- W2117352871 hasRelatedWork W377899687 @default.
- W2117352871 hasRelatedWork W4246578052 @default.
- W2117352871 hasRelatedWork W4293229760 @default.
- W2117352871 hasVolume "40" @default.
- W2117352871 isParatext "false" @default.
- W2117352871 isRetracted "false" @default.
- W2117352871 magId "2117352871" @default.
- W2117352871 workType "article" @default.