Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations
作者： K Abidallah , H Tenreiro , F Copigny , M Giraudeau , C Guy
DOI: 10.1038/ONC.2015.181
关键词:
摘要: BRCA1 and BRCA2 are the two major genes predisposing to breast ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several genes, only 11 cases of BRCA1/2 mutations reported date rate remains unknown. The present study was designed fill this gap based on a series 12 805 consecutive unrelated patients diagnosed with and/or cancer who met inclusion criteria gene analysis according French guidelines. were detected in 1527 (12%) patients, three one novo. estimated be 0.3% (0.1%; 0.7%). Although rare, it may useful take possibility into account genetic counseling relatives improve understanding complex family histories cancers.
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