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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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Ten types of sequence variants were detected, and among them four novel polymorphisms: c.2996+58T&gt;C in intron 9; c.505C&gt;A (p.L169I), c.618T&gt;G (p.L206L), both in exon 4; and c.2135C&gt;T (A712V) in exon 5 of the <jats:italic>PALB2<\/jats:italic> gene. Another two polymorphisms, c.212-58A&gt;C and c.2014G&gt;C (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 = 0.044, respectively). One ovarian cancer patient with the <jats:italic>PALB2<\/jats:italic> mutation had also a germline nonsense mutation of the <jats:italic>BRCA2<\/jats:italic> gene.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>The c.509_510delGA is a novel <jats:italic>PALB2<\/jats:italic> mutation that increases the risk of familial breast cancer. Occurrence of the same <jats:italic>PALB2<\/jats:italic> alteration in seven unrelated women suggests that c.509_510delGA (p.R170fs) is a recurrent mutation for Polish population.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-11-20","type":"journal-article","created":{"date-parts":[[2010,2,3]],"date-time":"2010-02-03T07:14:37Z","timestamp":1265181277000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":97,"title":["A novel germline PALB2 deletion in Polish breast and ovarian cancer patients"],"prefix":"10.1186","volume":"11","author":[{"given":"Agnieszka","family":"Dansonka-Mieszkowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kluska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Moes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michalina","family":"Dabrowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Nowakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Niwinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Derlatka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Cendrowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Kupryjanczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,2,2]]},"reference":[{"key":"581_CR1","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.molcel.2006.05.022","volume":"22","author":"B Xia","year":"2006","unstructured":"Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM: Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 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