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a novel germline palb2 deletion in polish breast and ovarian cancer patients一个新颖的生殖系palb2删除波兰乳腺癌和卵巢癌患者.pdfVIP

a novel germline palb2 deletion in polish breast and ovarian cancer patients一个新颖的生殖系palb2删除波兰乳腺癌和卵巢癌患者.pdf

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a novel germline palb2 deletion in polish breast and ovarian cancer patients一个新颖的生殖系palb2删除波兰乳腺癌和卵巢癌患者

Dansonka-Mieszkowska et al. BMC Medical Genetics 2010, 11:20 /1471-2350/11/20 RESEARCH ARTICLE Open Access A novel germline PALB2 deletion in Polish breast and ovarian cancer patients 1 2 1 2 3 Agnieszka Dansonka-Mieszkowska , Anna Kluska , Joanna Moes , Michalina Dabrowska , Dorota Nowakowska , 4 5 6 1* Anna Niwinska , Pawel Derlatka , Krzysztof Cendrowski , Jolanta Kupryjanczyk Abstract Background: PALB2 protein was recently identified as a partner of BRCA1 and BRCA2 which determines their proper function in DNA repair. Methods: Initially, the entire coding sequence of the PALB2 gene with exon/intron boundaries was evaluated by the PCR-SSCP and direct sequencing methods on 70 ovarian carcinomas. Sequence variants of interest were further studied on enlarged groups of ovarian carcinomas (total 339 non-consecutive ovarian carcinomas), blood samples from 334 consecutive sporadic and 648 consecutive familial breast cancer patients, and 1310 healthy controls from central Poland. Results: Ten types of sequence variants were detected, and among them four novel polymorphisms: c.2996 +58TC in intron 9; c.505CA (p.L169I), c.618TG (p.L206L), both in exon 4; and c.2135CT (A712V) in exon 5 of the PALB2 gene. Another two polymorphisms, c.212-58AC and c.2014GC (E672Q) were always detected together, both in cancer (7.5% of patients) and control samples (4.9% of controls, p = 0.2). A novel germline truncating mutation, c.509_510delGA (p.R170fs) was found in exon 4: in 2 of 339 (0.6%) unrelated ovarian cancer patients, in 4 of 648 (0.6%) unrelated familial breast cancer patients, and in 1 of 1310 controls (0.08%, p = 0.1, p

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