Matches in SemOpenAlex for { <https://semopenalex.org/work/W2331821298> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2331821298 abstract "Abstract #501 Background: Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wildtype allele has LOH (loss of heterozygosity) within the cancer. It is important to identify breast cancer patients with BRCA mutations so they can be appropriately treated and affected family members can implement cancer prevention strategies. Because most disease-associated BRCA2 mutations are truncating mutations, a test for truncated BRCA2 proteins should identify most BRCA2 hereditary cancers. Methods: We have developed a tissue truncation test to identify truncated BRCA2 proteins in breast cancer tissue biopsies by direct immunohistochemistry, without amplification or genetic manipulations. N-terminal and C-terminal antibodies are used to visualize protein truncation by demonstrating that the beginning of the protein is present but the end (terminus) is absent. Results: A quantitative C-terminal immunostaining score or a C/N terminal truncation ratio correctly classified 20/21 breast cancers from BRCA2 mutation carriers and 57/58 sporadic breast cancers. This represents a sensitivity of 95% and specificity of 98%. Figure 1 shows a loss of C-terminal staining (except for a lymphocyte) in the upper panel but strong N-terminal staining in the lower panel sections of the same hereditary breast cancer. Due to the presence of C-terminal BRCA2 protein and atypical clinical features of the misclassifed cancer in a BRCA2 mutation carrier,we performed PCR and sequence analyses on this cancer. The results showed continued presence of the BRCA2 wildtype allele in the cancer, indicating that this represents a sporadic cancer which occurred in a mutation carrier. Conclusions: This immunohistochemistry based test (which takes only 4 hours) appears to identify BRCA2 hereditary cancer with high accuracy. The test also appears to diagnose the biochemical loss of BRCA2 protein in cancers (BRCA2 mutant genotype) which will usually but not always agree with the presence of a germline BRCA2 mutation found by susceptibility testing by DNA sequencing of blood samples. This rapid but accurate tissue test can diagnose hereditary BRCA2 breast cancer at time of biopsy, allowing medical oncologists to implement targeted therapies and surgeons to perform timely prophylactic surgery without the usual 4 week wait for DNA sequencing results. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 501." @default.
- W2331821298 created "2016-06-24" @default.
- W2331821298 creator A5001566953 @default.
- W2331821298 creator A5027465816 @default.
- W2331821298 creator A5053839797 @default.
- W2331821298 creator A5054309685 @default.
- W2331821298 creator A5088799361 @default.
- W2331821298 date "2009-01-15" @default.
- W2331821298 modified "2023-09-27" @default.
- W2331821298 title "Detecting BRCA2 protein truncation in breast tissue biopsies to identify hereditary cancer." @default.
- W2331821298 doi "https://doi.org/10.1158/0008-5472.sabcs-501" @default.
- W2331821298 hasPublicationYear "2009" @default.
- W2331821298 type Work @default.
- W2331821298 sameAs 2331821298 @default.
- W2331821298 citedByCount "0" @default.
- W2331821298 crossrefType "proceedings-article" @default.
- W2331821298 hasAuthorship W2331821298A5001566953 @default.
- W2331821298 hasAuthorship W2331821298A5027465816 @default.
- W2331821298 hasAuthorship W2331821298A5053839797 @default.
- W2331821298 hasAuthorship W2331821298A5054309685 @default.
- W2331821298 hasAuthorship W2331821298A5088799361 @default.
- W2331821298 hasConcept C104317684 @default.
- W2331821298 hasConcept C121608353 @default.
- W2331821298 hasConcept C13514818 @default.
- W2331821298 hasConcept C142724271 @default.
- W2331821298 hasConcept C143589142 @default.
- W2331821298 hasConcept C180754005 @default.
- W2331821298 hasConcept C204232928 @default.
- W2331821298 hasConcept C2909462720 @default.
- W2331821298 hasConcept C4224716 @default.
- W2331821298 hasConcept C501734568 @default.
- W2331821298 hasConcept C502942594 @default.
- W2331821298 hasConcept C530470458 @default.
- W2331821298 hasConcept C54355233 @default.
- W2331821298 hasConcept C71924100 @default.
- W2331821298 hasConcept C86803240 @default.
- W2331821298 hasConceptScore W2331821298C104317684 @default.
- W2331821298 hasConceptScore W2331821298C121608353 @default.
- W2331821298 hasConceptScore W2331821298C13514818 @default.
- W2331821298 hasConceptScore W2331821298C142724271 @default.
- W2331821298 hasConceptScore W2331821298C143589142 @default.
- W2331821298 hasConceptScore W2331821298C180754005 @default.
- W2331821298 hasConceptScore W2331821298C204232928 @default.
- W2331821298 hasConceptScore W2331821298C2909462720 @default.
- W2331821298 hasConceptScore W2331821298C4224716 @default.
- W2331821298 hasConceptScore W2331821298C501734568 @default.
- W2331821298 hasConceptScore W2331821298C502942594 @default.
- W2331821298 hasConceptScore W2331821298C530470458 @default.
- W2331821298 hasConceptScore W2331821298C54355233 @default.
- W2331821298 hasConceptScore W2331821298C71924100 @default.
- W2331821298 hasConceptScore W2331821298C86803240 @default.
- W2331821298 hasLocation W23318212981 @default.
- W2331821298 hasOpenAccess W2331821298 @default.
- W2331821298 hasPrimaryLocation W23318212981 @default.
- W2331821298 hasRelatedWork W101578499 @default.
- W2331821298 hasRelatedWork W1484604647 @default.
- W2331821298 hasRelatedWork W1976564360 @default.
- W2331821298 hasRelatedWork W1983120292 @default.
- W2331821298 hasRelatedWork W1997885609 @default.
- W2331821298 hasRelatedWork W2011257997 @default.
- W2331821298 hasRelatedWork W2026076019 @default.
- W2331821298 hasRelatedWork W2055269581 @default.
- W2331821298 hasRelatedWork W2081265129 @default.
- W2331821298 hasRelatedWork W2122176151 @default.
- W2331821298 hasRelatedWork W2134574443 @default.
- W2331821298 hasRelatedWork W2364566542 @default.
- W2331821298 hasRelatedWork W2365904696 @default.
- W2331821298 hasRelatedWork W2379182116 @default.
- W2331821298 hasRelatedWork W2387434165 @default.
- W2331821298 hasRelatedWork W2902757309 @default.
- W2331821298 hasRelatedWork W2971016375 @default.
- W2331821298 hasRelatedWork W3023237631 @default.
- W2331821298 hasRelatedWork W3083210612 @default.
- W2331821298 hasRelatedWork W2757588388 @default.
- W2331821298 isParatext "false" @default.
- W2331821298 isRetracted "false" @default.
- W2331821298 magId "2331821298" @default.
- W2331821298 workType "article" @default.