The presence of genomic rearrangements of the BRCA1 gene in breast and/or ovarian cancer families has been intensively investigated in patients from various countries over the last years. A number of different rearrangements have been reported by several studies that clearly document the involvement
Large genomic rearrangements in BRCA1 and BRCA2 genes in breast and ovarian cancer families in Poland
✍ Scribed by Helena Bielecka; Bohdan Górski
- Book ID
- 115027868
- Publisher
- BioMed Central
- Year
- 2012
- Tongue
- English
- Weight
- 69 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1897-4287
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## Communicated by Richard Wooster Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 kb, scattered over 22 and 26 coding exons, respectively. The large majority of the alterations ident
Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%)