Stuppia L, Di Fulvio P, Aceto G, Pintor S, Veschi S, Gatta V, Colosimo A, Cianchetti E, Cama A, Mariani-Costantini R, Battista P, Palka G
Dipartimenti di Scienze Biomediche, Università "G. D'Annunzio", Chieti, Italy.
Hum Mutat. 2003 Aug;22(2):178-9. doi: 10.1002/humu.9164.
We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database.
我们报告了通过单链构象多态性分析（SSCP）、引物延伸预扩增（PTT）和直接测序法，对68个患有复发性乳腺癌或卵巢癌的意大利家族的整个BRCA1/BRCA2编码序列进行筛查的情况。对于每个被调查的先证者，使用BRCAPRO软件评估其携带BRCA1/BRCA2突变的概率。我们在8名患者（11.7%）中检测到BRCA1/BRCA2突变。然而，如果仅考虑携带概率>10%的患者，检测率为36.8%，证实了BRCAPRO软件的有效性。其中一个变化（BRCA1 4172insT）是BIC数据库中未报道的新突变。
