A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas

2.50
Hdl Handle:
http://hdl.handle.net/2336/30477
Title:
A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas
Authors:
Gudbjartsson, Tomas; Jonasdottir, Thora J; Thoroddsen, Asgeir; Einarsson, Gudmundur V; Jonsdottir, Gudrun M; Kristjansson, Kristleifur; Hardarson, Sverrir; Magnusson, Kjartan; Gulcher, Jeffrey; Stefansson, Kari; Amundadottir, Laufey T
Citation:
Int. J. Cancer. 2002, 100(4):476-9
Issue Date:
1-Aug-2002
Abstract:
The etiology of RCC is incompletely understood and the inherited genetic contribution uncertain. Although there are rare mendelian forms of RCC stemming from inherited mutations, most cases are thought to be sporadic. We sought to determine the extent of familial aggregation among Icelandic RCC patients in general. Medical and pathologic records for all patients diagnosed with RCC in Iceland between 1955 and 1999 were reviewed. This included a total of 1,078 RCC cases, 660 males and 418 females. With the use of an extensive computerized database containing genealogic information on 630,000 people in Iceland during the past 11 centuries, several analyses were conducted to determine whether the patients were more related to each other than members drawn at random from the population. Patients with RCC were significantly more related to each other than were subjects in matched groups of controls. This relatedness extended beyond the nuclear family. RRs were significantly greater than 1.0 for siblings, parents and cousins of probands. RRs were 2-3 for first-degree relatives and 1.6 for third-degree relatives. The risk of RCC is significantly higher for members of the extended family of an affected individual, as well as the nuclear family. Our results indicate that germline mutations are significantly involved in what has been defined as sporadic RCC.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1002/ijc.10513

Full metadata record

DC FieldValue Language
dc.contributor.authorGudbjartsson, Tomas-
dc.contributor.authorJonasdottir, Thora J-
dc.contributor.authorThoroddsen, Asgeir-
dc.contributor.authorEinarsson, Gudmundur V-
dc.contributor.authorJonsdottir, Gudrun M-
dc.contributor.authorKristjansson, Kristleifur-
dc.contributor.authorHardarson, Sverrir-
dc.contributor.authorMagnusson, Kjartan-
dc.contributor.authorGulcher, Jeffrey-
dc.contributor.authorStefansson, Kari-
dc.contributor.authorAmundadottir, Laufey T-
dc.date.accessioned2008-06-25T13:56:56Z-
dc.date.available2008-06-25T13:56:56Z-
dc.date.issued2002-08-01-
dc.date.submitted2008-06-25-
dc.identifier.citationInt. J. Cancer. 2002, 100(4):476-9en
dc.identifier.issn0020-7136-
dc.identifier.pmid12115533-
dc.identifier.doi10.1002/ijc.10513-
dc.identifier.urihttp://hdl.handle.net/2336/30477-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThe etiology of RCC is incompletely understood and the inherited genetic contribution uncertain. Although there are rare mendelian forms of RCC stemming from inherited mutations, most cases are thought to be sporadic. We sought to determine the extent of familial aggregation among Icelandic RCC patients in general. Medical and pathologic records for all patients diagnosed with RCC in Iceland between 1955 and 1999 were reviewed. This included a total of 1,078 RCC cases, 660 males and 418 females. With the use of an extensive computerized database containing genealogic information on 630,000 people in Iceland during the past 11 centuries, several analyses were conducted to determine whether the patients were more related to each other than members drawn at random from the population. Patients with RCC were significantly more related to each other than were subjects in matched groups of controls. This relatedness extended beyond the nuclear family. RRs were significantly greater than 1.0 for siblings, parents and cousins of probands. RRs were 2-3 for first-degree relatives and 1.6 for third-degree relatives. The risk of RCC is significantly higher for members of the extended family of an affected individual, as well as the nuclear family. Our results indicate that germline mutations are significantly involved in what has been defined as sporadic RCC.en
dc.language.isoenen
dc.publisherWiley-Lissen
dc.relation.urlhttp://dx.doi.org/10.1002/ijc.10513en
dc.subject.meshAdulten
dc.subject.meshCarcinoma, Renal Cellen
dc.subject.meshCase-Control Studiesen
dc.subject.meshFemaleen
dc.subject.meshGerm-Line Mutationen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshKidney Neoplasmsen
dc.subject.meshMaleen
dc.subject.meshPedigreeen
dc.titleA population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomasen
dc.typeArticleen
dc.contributor.departmentLandspítali-University Hospital, Reykjavík, Iceland. tgudbjartsson@bwh.harvard.eduen
dc.identifier.journalInternational journal of canceren

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