![]() Sanger sequencing and MLPA are to date considered the gold standard methods to determine the BRCA1 and BRCA2 mutation status. Large genomic alterations may be detected by the multiplex ligation-dependent probe amplification (MLPA) assay. ![]() ![]() The contribution of low-penetrance and risk-modifying genetic polymorphisms to a more appropriate assessment of individual risk is also emerging ( Couch et al., 2012 Ottini et al., 2013 Kuchenbaecker et al., 2014 Peterlongo et al., 2015).ĭirect Sanger sequencing represented the most common method for over two decades to identify single nucleotide alterations, insertions, and deletions of BRCA1 and BRCA2 in the clinical practice. A large mutation spectrum has been reported for these genes, as recently revised ( Rebbeck et al., 2018). A recent prospective cohort study has estimated that the cumulative risks of breast cancer to age 80 years was 72% for BRCA1 and 69% for BRCA2 carriers ( Kuchenbaecker et al., 2017). Inherited mutations in highly penetrant BRCA1 and BRCA2 genes occur in about 5–10% of breast and ovarian cancer disease ( Foulkes, 2008).
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |