原创力文档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
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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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