PubMed:15170666 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/15170666","sourcedb":"PubMed","sourceid":"15170666","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15170666","text":"The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.\nSix SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized. The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p \u003c 0.021). We found that the immunohistochemical profile detected in available tumors from these patients differs slightly from those described in non-BRCA1/2 tumors. Finally, the structural prediction of the putative functional consequence of this change indicates that it can diminish protein stability and structure. This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.","tracks":[{"project":"DisGeNET5_variant_disease","denotations":[{"id":"15170666-0#12#17#geners28363284","span":{"begin":12,"end":17},"obj":"geners28363284"},{"id":"15170666-0#83#96#diseaseC0006142","span":{"begin":83,"end":96},"obj":"diseaseC0006142"},{"id":"15170666-0#83#96#diseaseC0678222","span":{"begin":83,"end":96},"obj":"diseaseC0678222"},{"id":"15170666-5#25#30#geners28363284","span":{"begin":970,"end":975},"obj":"geners28363284"},{"id":"15170666-5#109#131#diseaseC0346153","span":{"begin":1054,"end":1076},"obj":"diseaseC0346153"}],"relations":[{"id":"12#17#geners2836328483#96#diseaseC0006142","pred":"associated_with","subj":"15170666-0#12#17#geners28363284","obj":"15170666-0#83#96#diseaseC0006142"},{"id":"12#17#geners2836328483#96#diseaseC0678222","pred":"associated_with","subj":"15170666-0#12#17#geners28363284","obj":"15170666-0#83#96#diseaseC0678222"},{"id":"25#30#geners28363284109#131#diseaseC0346153","pred":"associated_with","subj":"15170666-5#25#30#geners28363284","obj":"15170666-5#109#131#diseaseC0346153"}],"attributes":[{"subj":"15170666-0#12#17#geners28363284","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"15170666-0#83#96#diseaseC0006142","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"15170666-0#83#96#diseaseC0678222","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"15170666-5#25#30#geners28363284","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"15170666-5#109#131#diseaseC0346153","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15170666-0#25#31#gene5892","span":{"begin":25,"end":31},"obj":"gene5892"},{"id":"15170666-0#83#96#diseaseC0006142","span":{"begin":83,"end":96},"obj":"diseaseC0006142"},{"id":"15170666-0#83#96#diseaseC0678222","span":{"begin":83,"end":96},"obj":"diseaseC0678222"},{"id":"15170666-2#152#157#gene672","span":{"begin":386,"end":391},"obj":"gene672"},{"id":"15170666-2#27#33#gene5892","span":{"begin":261,"end":267},"obj":"gene5892"},{"id":"15170666-2#268#281#diseaseC0006142","span":{"begin":502,"end":515},"obj":"diseaseC0006142"},{"id":"15170666-2#268#281#diseaseC0678222","span":{"begin":502,"end":515},"obj":"diseaseC0678222"},{"id":"15170666-2#90#112#diseaseC0346153","span":{"begin":324,"end":346},"obj":"diseaseC0346153"},{"id":"15170666-5#162#167#gene672","span":{"begin":1107,"end":1112},"obj":"gene672"},{"id":"15170666-5#109#131#diseaseC0346153","span":{"begin":1054,"end":1076},"obj":"diseaseC0346153"}],"relations":[{"id":"25#31#gene589283#96#diseaseC0006142","pred":"associated_with","subj":"15170666-0#25#31#gene5892","obj":"15170666-0#83#96#diseaseC0006142"},{"id":"25#31#gene589283#96#diseaseC0678222","pred":"associated_with","subj":"15170666-0#25#31#gene5892","obj":"15170666-0#83#96#diseaseC0678222"},{"id":"152#157#gene672268#281#diseaseC0006142","pred":"associated_with","subj":"15170666-2#152#157#gene672","obj":"15170666-2#268#281#diseaseC0006142"},{"id":"152#157#gene672268#281#diseaseC0678222","pred":"associated_with","subj":"15170666-2#152#157#gene672","obj":"15170666-2#268#281#diseaseC0678222"},{"id":"152#157#gene67290#112#diseaseC0346153","pred":"associated_with","subj":"15170666-2#152#157#gene672","obj":"15170666-2#90#112#diseaseC0346153"},{"id":"27#33#gene5892268#281#diseaseC0006142","pred":"associated_with","subj":"15170666-2#27#33#gene5892","obj":"15170666-2#268#281#diseaseC0006142"},{"id":"27#33#gene5892268#281#diseaseC0678222","pred":"associated_with","subj":"15170666-2#27#33#gene5892","obj":"15170666-2#268#281#diseaseC0678222"},{"id":"27#33#gene589290#112#diseaseC0346153","pred":"associated_with","subj":"15170666-2#27#33#gene5892","obj":"15170666-2#90#112#diseaseC0346153"},{"id":"162#167#gene672109#131#diseaseC0346153","pred":"associated_with","subj":"15170666-5#162#167#gene672","obj":"15170666-5#109#131#diseaseC0346153"}],"attributes":[{"subj":"15170666-0#25#31#gene5892","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-0#83#96#diseaseC0006142","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-0#83#96#diseaseC0678222","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-2#152#157#gene672","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-2#27#33#gene5892","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-2#268#281#diseaseC0006142","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-2#268#281#diseaseC0678222","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-2#90#112#diseaseC0346153","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-5#162#167#gene672","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15170666-5#109#131#diseaseC0346153","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute 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