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Further evidence fo...
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
- Article/chapterEnglish2011
Publisher, publication year, extent ...
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2011-07-13
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Springer Science and Business Media LLC,2011
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/147548
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https://gup.ub.gu.se/publication/147548URI
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https://doi.org/10.1007/s10549-011-1677-xDOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:123637932URI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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RAD51C, a RAD51 paralogue involved in homologous recombination, is a recently established Fanconi anemia and breast cancer predisposing factor. In the initial report, RAD51C mutations were shown to confer a high risk for both breast and ovarian tumors, but most of the replication studies published so far have failed to identify any additional susceptibility alleles. Here, we report a full mutation screening of the RAD51C gene in 147 Finnish familial breast cancer cases and in 232 unselected ovarian cancer cases originating from Finland and Sweden. In addition, in order to resolve whether common RAD51C SNPs are risk factors for breast cancer, we genotyped five tagging single nucleotide polymorphisms, rs12946522, rs304270, rs304283, rs17222691, and rs28363312, all located within the gene, from 993 Finnish breast cancer cases and 871 controls for cancer associated variants. Whereas, none of the studied common SNPs associated with breast cancer susceptibility, mutation analysis revealed two clearly pathogenic alterations. RAD51C c.-13_14del27 was observed in one familial breast cancer case and c.774delT in one unselected ovarian cancer case, thus confirming that RAD51C mutations are implicated in breast and ovarian cancer predisposition, although their overall frequency seems to be low. Independent identification of the very recently reported RAD51C c.774delT mutation in yet another patient originating from Sweden suggests that it might be a recurrent mutation in that population and should be studied further. The reliable estimation of the clinical implications of carrying a defective RAD51C allele still requires the identification of additional mutation positive families.
Subject headings and genre
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Pylkäs, Katri
(author)
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Hartikainen, Jaana M
(author)
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Sundfeldt, Karin,1962Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology(Swepub:gu)xsukar
(author)
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Lindblom, AnnikaKarolinska Institutet
(author)
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von Wachenfeldt Wäppling, Anna
(author)
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Haanpää, Maria
(author)
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Puistola, Ulla
(author)
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Rosengren, Annika,1951Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för akut och kardiovaskulär medicin,Institute of Medicine, Department of Emergeny and Cardiovascular Medicine(Swepub:gu)xrosan
(author)
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Anttila, Maarit
(author)
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Kosma, Veli-Matti
(author)
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Mannermaa, Arto
(author)
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Winqvist, Robert
(author)
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Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi
(creator_code:org_t)
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In:Breast cancer research and treatment: Springer Science and Business Media LLC130:3, s. 1003-10101573-72170167-6806
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Vuorela, Mikko
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Pylkäs, Katri
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Hartikainen, Jaa ...
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Sundfeldt, Karin ...
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Lindblom, Annika
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Haanpää, Maria
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Puistola, Ulla
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Rosengren, Annik ...
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Anttila, Maarit
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Kosma, Veli-Matt ...
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Mannermaa, Arto
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Winqvist, Robert
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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- MEDICAL AND HEALTH SCIENCES
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Breast cancer re ...
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University of Gothenburg
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Karolinska Institutet