Found: 10
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Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1362, doi. 10.1038/ejhg.2014.40
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- Publication type:
- Article
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
- Published in:
- Breast Cancer Research & Treatment, 2016, v. 155, n. 2, p. 215, doi. 10.1007/s10549-015-3674-y
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- Article
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
- Published in:
- Breast Cancer Research & Treatment, 2015, v. 150, n. 2, p. 289, doi. 10.1007/s10549-015-3313-7
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- Article
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.
- Published in:
- Familial Cancer, 2015, v. 14, n. 1, p. 129, doi. 10.1007/s10689-014-9747-y
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- Article
Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.
- Published in:
- Familial Cancer, 2011, v. 10, n. 2, p. 207, doi. 10.1007/s10689-011-9422-5
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- Article
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.
- Published in:
- Familial Cancer, 2010, v. 9, n. 3, p. 283, doi. 10.1007/s10689-010-9345-6
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- Publication type:
- Article
Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 876, doi. 10.1002/ccr3.944
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- Article
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
- Published in:
- Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 1009, doi. 10.1007/s10549-011-1674-0
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- Publication type:
- Article
Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer
- Published in:
- 2011
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- Publication type:
- Report
The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 119, n. 3, p. 547, doi. 10.1007/s10549-009-0359-4
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- Publication type:
- Article