1996
DOI: 10.1136/jmg.33.9.721
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BRCA1 mutations in a selected series of breast/ovarian cancer patients.

Abstract: Germline mutations in the BRCA1 gene have been associated with familial breast/ ovarian cancer in large families showing high penetrance of the disease. Little is known, however, about the contribution of BRCA1 mutations to breast/ovarian cancer in small families with few affected members or in isolated early onset cases. Therefore we examined the BRCA1 gene in 63 breast/ovarian cancer patients who either came from small families with as few as one affected first degree relative, or in patients who had no fami… Show more

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Cited by 7 publications
(3 citation statements)
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References 12 publications
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“…Figure 4 demonstrates this is the case for the previously characterised BRCA1 1611delC mutant. 14 EBV transformed cells harbouring the mutation were grown in the presence or absence of cycloheximide, an inhibitor of protein synthesis. Genomic DNA or cDNA was used as template to amplify codons 447-581 of BRCA1 and the PCR products were sequenced.…”
Section: Nonsense-mediated Mrna Decay Is Inhibited By Cycloheximidementioning
confidence: 99%
See 1 more Smart Citation
“…Figure 4 demonstrates this is the case for the previously characterised BRCA1 1611delC mutant. 14 EBV transformed cells harbouring the mutation were grown in the presence or absence of cycloheximide, an inhibitor of protein synthesis. Genomic DNA or cDNA was used as template to amplify codons 447-581 of BRCA1 and the PCR products were sequenced.…”
Section: Nonsense-mediated Mrna Decay Is Inhibited By Cycloheximidementioning
confidence: 99%
“…[12][13][14] In each case, the general strategy is the same: cDNA is used as PCR template for the 21 smaller exons containing 40% of the coding sequence, while the 3427 basepairs (60% of the coding sequence) of exon 11 are amplified from genomic DNA. BRCA1 is PCR-amplified in five or six overlapping segments of convenient size, and the entire gene is screened for truncating mutations by analysing the five or six PCR products by in vitro transcription/ translation and SDS-PAGE.…”
Section: Introductionmentioning
confidence: 99%
“…Exon 11 was subdivided into three segments of 925, 1460, and 1456 bp in size. Primers used for this analysis have been described elsewhere (Garvin et al, 1996). PCR amplification of the three segments was as follows: 200 ng genomic DNA was used as template in a 25 µl reaction volume using standard PCR conditions except that the primer concentration was 200 nM.…”
Section: Ptt Analysismentioning
confidence: 99%