Lahti-Domenici J, Rapakko K, Pääkkönen K, Allinen M, Nevanlinna H, Kujala M, Huusko P, Winqvist R
Department of Clinical Genetics, University of Oulu/Oulu University Hospital, P.O. Box 22, FIN-90220, Oulu, Finland.
Cancer Genet Cytogenet. 2001 Sep;129(2):120-3. doi: 10.1016/s0165-4608(01)00437-x.
In the Finnish population, identified mutations in BRCA1 and BRCA2 account for a less than expected proportion of hereditary breast and ovarian cancer. All previous studies performed in our country have concentrated on finding germ-line mutations in the coding and splice-site regions of these two genes. Therefore, we wanted to use a different methodological approach and search for large genomic rearrangements, to exclude the possibility of biased BRCA1 and BRCA2 mutation spectra due to known limitations of the previously used PCR-based detection methods. Our results support earlier notions that other genes than BRCA1 and BRCA2 will explain a majority of the still unexplained cases of hereditary susceptibility to breast and ovarian cancer.
在芬兰人群中，已鉴定出的BRCA1和BRCA2基因突变在遗传性乳腺癌和卵巢癌中所占比例低于预期。我国此前进行的所有研究都集中在寻找这两个基因编码区和剪接位点区域的种系突变。因此，我们想采用一种不同的方法，寻找大的基因组重排，以排除由于先前基于PCR的检测方法存在已知局限性而导致BRCA1和BRCA2突变谱出现偏差的可能性。我们的结果支持了早期的观点，即除BRCA1和BRCA2之外的其他基因将解释大多数仍无法解释的遗传性乳腺癌和卵巢癌易感性病例。
