Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. A total of eight putative disease-causing alterations wer...

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Veröffentlicht in:	Nature genetics 1994-12, Vol.8 (4), p.387-391
Hauptverfasser:	Castilla, Lucio H., Couch, Fergus J., Erdos, Michael R., Hoskins, Kent F., Calzone, Kathy, Garber, Judy E., Boyd, Jeff, Lubin, Matthew B., Deshano, Michelle L., Brody, Lawrence C., Collins, Francis S., Weber, Barbara L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Agriculture Animal Genetics and Genomics Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine BRCA1 gene BRCA1 Protein breast carcinoma Breast Neoplasms - genetics Cancer Research carcinoma DNA Primers Female Gene Function Germ-Line Mutation Gynecology. Andrology. Obstetrics Human Genetics Humans Mammary gland diseases man Medical sciences Molecular Sequence Data mutation Neoplasm Proteins - genetics oncogenes Ovarian Neoplasms - genetics ovaries Polymorphism, Genetic Transcription Factors - genetics Tumors
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