Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas

@article{Wilson1999LocalizationOH,
  title={Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas},
  author={Cindy A. Wilson and Lillian Ramos and Maria Ruibal Villasenor and Karl H. Anders and Michael F. Press and Kathy Clarke and Beth Y. Karlan and Junjie Chen and Ralph Scully and David M Livingston and R H Zuch and Michael H. Kanter and Sylvan Cohen and Frank J. Calzone and Dennis J Slamon},
  journal={Nature Genetics},
  year={1999},
  volume={21},
  pages={236-240}
}
Although the link between the BRCA1 tumour–suppressor gene and hereditary breast and ovarian cancer is established, the role, if any, of BRCA1 in non–familial cancers is unclear. BRCA1 mutations are rare in sporadic cancers, but loss of BRCA1 resulting from reduced expression or incorrect subcellular localization is postulated to be important in non–familial breast and ovarian cancers. Epigenetic loss, however, has not received general acceptance due to controversy regarding the subcellular… 
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TLDR
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TLDR
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References

SHOWING 1-10 OF 29 REFERENCES
Aberrant Subcellular Localization of BRCA1 in Breast Cancer
The BRCA1 gene product was identified as a 220-kilodalton nuclear phosphoprotein in normal cells, including breast ductal epithelial cells, and in 18 of 20 tumor cell lines derived from tissues other
BRCA1 mutations in primary breast and ovarian carcinomas.
TLDR
Results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.
Genomic deletions in the BRCA1, BRCA2 and TP53 regions associate with low expression of the estrogen receptor in sporadic breast carcinoma
TLDR
The data point to a relationship between clinically relevant prognostic factors and specific genomic deletions in the BRCA1, BRCa2 and TP53 region, which is linked to high‐grade malignant tumors, to tumor size, and to loss of expression of the estrogen receptor.
Localization of BRCA1 and a splice variant identifies the nuclear localization signal
TLDR
The results suggest that BRCA1 is a nuclear protein and raise the possibility that splicing is one form of regulation of B RCA1 function by alteration of the subcellular localization of expressed proteins.
Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression
TLDR
It is suggested that BRCA1 may normally serve as a negative regulator of mammary epithelial cell growth whose function is compromised in breast cancer either by direct mutation or alterations in gene expression.
Methylation of the BRCA1 gene in sporadic breast cancer.
TLDR
Hypermethylation was observed in two of seven sporadic breast carcinomas but not in any normal tissues, consistent with an important role for epigenetic mechanisms in human cancer.
Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-Δ11b
TLDR
Interestingly, BRCA1-Δ11b message was greatly reduced or absent in several breast and ovarian tumor lines relative to exon 11 transcripts and a Δ9,10 splice variant, suggesting that full-length BRC a1 and BRCa1- Δ11b may have distinct roles in cell growth regulation and tumorigenesis.
Somatic mutations in the BRCA1 gene in sporadic ovarian tumours
TLDR
Somatic mutations in the DNA of four tumours which also had loss of heterozygosity (LOH) at a BRCA1 intragenic marker support a tumour suppressor mechanism for BRCa1; somatic mutations and LOH may result in inactivation of BRC a1 in at least a small number of ovarian cancers.
Mutations and Polymorphisms in the familial early‐onset breast cancer (BRCA1) gene
TLDR
A total of 254 BRCA1 mutations, 132 of which are unique, are reported here, which represent mutations entered into a database established by the Breast Cancer Information Core (BIC), which have appeared in the literature or have been submitted by BIC members and other contributors prior to publication.
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have
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