FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2106248268> ?p ?o ?g. }

• W2106248268 abstract "Hereditary artifacts in BRCA1 gene have a significant contributory role in familial cases of breast cancer. However, its germline mutational penetrance in sporadic breast cancer cases with respect to Pakistani population has not yet been very well defined. This study was designed to assess the contributory role of germline mutations of this gene in sporadic cases of breast cancer. 150 cases of unilateral breast cancer patients, with no prior family history of breast cancer and no other disorders or diseases in general with age range 35–75 yrs, were included in this study.Mutational analysis for hot spots on Exon 2, 3 and 13 of BRCA1 was done by using Single Strand Conformational Polymorphism (SSCP). Sequence analysis revealed five variants (missense) and one novel splice site mutation at exon 13. No germline mutation was observed on the remaining exons with respect sporadic breast cancer cases in Pakistani population. A vast majority of breast cancer cases are sporadic; the present study may be helpful for designing a better genetic screening tool for germline BRCA mutations in sporadic breast cancer patients of Pakistani population. Further studies involving a screening of entire coding region of BRCA1 is required to explore the merits of genetic diagnosis and counseling in breast cancer patients." @default.
• W2106248268 created "2016-06-24" @default.
• W2106248268 creator A5000839896 @default.
• W2106248268 creator A5011136045 @default.
• W2106248268 creator A5017993198 @default.
• W2106248268 creator A5034972256 @default.
• W2106248268 creator A5039675984 @default.
• W2106248268 creator A5049222213 @default.
• W2106248268 creator A5057511637 @default.
• W2106248268 creator A5085114591 @default.
• W2106248268 date "2008-08-29" @default.
• W2106248268 modified "2023-10-12" @default.
• W2106248268 title "Contribution of BRCA1 germline mutation in patients with sporadic breast cancer" @default.
• W2106248268 cites W1568615316 @default.
• W2106248268 cites W1969693388 @default.
• W2106248268 cites W1989500771 @default.
• W2106248268 cites W1998445290 @default.
• W2106248268 cites W2000789151 @default.
• W2106248268 cites W2009630519 @default.
• W2106248268 cites W2015932220 @default.
• W2106248268 cites W2040443259 @default.
• W2106248268 cites W2057596022 @default.
• W2106248268 cites W2069317781 @default.
• W2106248268 cites W2085210663 @default.
• W2106248268 cites W2090740451 @default.
• W2106248268 cites W2097026108 @default.
• W2106248268 cites W2109465247 @default.
• W2106248268 cites W2161669340 @default.
• W2106248268 cites W2163822317 @default.
• W2106248268 cites W4252946660 @default.
• W2106248268 cites W4299954322 @default.
• W2106248268 doi "https://doi.org/10.1186/1477-7800-5-21" @default.
• W2106248268 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2538523" @default.
• W2106248268 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18759965" @default.
• W2106248268 hasPublicationYear "2008" @default.
• W2106248268 type Work @default.
• W2106248268 sameAs 2106248268 @default.
• W2106248268 citedByCount "8" @default.
• W2106248268 countsByYear W21062482682013 @default.
• W2106248268 countsByYear W21062482682015 @default.
• W2106248268 countsByYear W21062482682017 @default.
• W2106248268 countsByYear W21062482682018 @default.
• W2106248268 crossrefType "journal-article" @default.
• W2106248268 hasAuthorship W2106248268A5000839896 @default.
• W2106248268 hasAuthorship W2106248268A5011136045 @default.
• W2106248268 hasAuthorship W2106248268A5017993198 @default.
• W2106248268 hasAuthorship W2106248268A5034972256 @default.
• W2106248268 hasAuthorship W2106248268A5039675984 @default.
• W2106248268 hasAuthorship W2106248268A5049222213 @default.
• W2106248268 hasAuthorship W2106248268A5057511637 @default.
• W2106248268 hasAuthorship W2106248268A5085114591 @default.
• W2106248268 hasBestOaLocation W21062482681 @default.
• W2106248268 hasConcept C104317684 @default.
• W2106248268 hasConcept C109825262 @default.
• W2106248268 hasConcept C121608353 @default.
• W2106248268 hasConcept C126322002 @default.
• W2106248268 hasConcept C127716648 @default.
• W2106248268 hasConcept C13514818 @default.
• W2106248268 hasConcept C143998085 @default.
• W2106248268 hasConcept C200544954 @default.
• W2106248268 hasConcept C2780140570 @default.
• W2106248268 hasConcept C2908647359 @default.
• W2106248268 hasConcept C36823959 @default.
• W2106248268 hasConcept C501734568 @default.
• W2106248268 hasConcept C530470458 @default.
• W2106248268 hasConcept C54355233 @default.
• W2106248268 hasConcept C71924100 @default.
• W2106248268 hasConcept C75563809 @default.
• W2106248268 hasConcept C80227256 @default.
• W2106248268 hasConcept C86803240 @default.
• W2106248268 hasConcept C99454951 @default.
• W2106248268 hasConceptScore W2106248268C104317684 @default.
• W2106248268 hasConceptScore W2106248268C109825262 @default.
• W2106248268 hasConceptScore W2106248268C121608353 @default.
• W2106248268 hasConceptScore W2106248268C126322002 @default.
• W2106248268 hasConceptScore W2106248268C127716648 @default.
• W2106248268 hasConceptScore W2106248268C13514818 @default.
• W2106248268 hasConceptScore W2106248268C143998085 @default.
• W2106248268 hasConceptScore W2106248268C200544954 @default.
• W2106248268 hasConceptScore W2106248268C2780140570 @default.
• W2106248268 hasConceptScore W2106248268C2908647359 @default.
• W2106248268 hasConceptScore W2106248268C36823959 @default.
• W2106248268 hasConceptScore W2106248268C501734568 @default.
• W2106248268 hasConceptScore W2106248268C530470458 @default.
• W2106248268 hasConceptScore W2106248268C54355233 @default.
• W2106248268 hasConceptScore W2106248268C71924100 @default.
• W2106248268 hasConceptScore W2106248268C75563809 @default.
• W2106248268 hasConceptScore W2106248268C80227256 @default.
• W2106248268 hasConceptScore W2106248268C86803240 @default.
• W2106248268 hasConceptScore W2106248268C99454951 @default.
• W2106248268 hasIssue "1" @default.
• W2106248268 hasLocation W21062482681 @default.
• W2106248268 hasLocation W21062482682 @default.
• W2106248268 hasLocation W21062482683 @default.
• W2106248268 hasLocation W21062482684 @default.
• W2106248268 hasOpenAccess W2106248268 @default.
• W2106248268 hasPrimaryLocation W21062482681 @default.
• W2106248268 hasRelatedWork W1542979002 @default.
• W2106248268 hasRelatedWork W2001049253 @default.
• W2106248268 hasRelatedWork W2036729517 @default.

• next