A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas
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...
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Language: | English |
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crwiley:10.1002/ijc.10513 2024-09-15T18:13:33+00:00 A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas Gudbjartsson, Tómas Jónasdóttir, Thora J. Thoroddsen, Ásgeir Einarsson, Gudmundur V. Jónsdóttir, Gudrún M. Kristjánsson, Kristleifur Hardarson, Sverrir Magnússon, Kjartan Gulcher, Jeffrey Stefánsson, Kári Ámundadóttir, Laufey T. 2002 http://dx.doi.org/10.1002/ijc.10513 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fijc.10513 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ijc.10513 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor International Journal of Cancer volume 100, issue 4, page 476-479 ISSN 0020-7136 1097-0215 journal-article 2002 crwiley https://doi.org/10.1002/ijc.10513 2024-08-06T04:21:07Z 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. © 2002 Wiley‐Liss, Inc. Article in Journal/Newspaper Iceland Wiley Online Library International Journal of Cancer 100 4 476 479 |
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Wiley Online Library |
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crwiley |
language |
English |
description |
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. © 2002 Wiley‐Liss, Inc. |
format |
Article in Journal/Newspaper |
author |
Gudbjartsson, Tómas Jónasdóttir, Thora J. Thoroddsen, Ásgeir Einarsson, Gudmundur V. Jónsdóttir, Gudrún M. Kristjánsson, Kristleifur Hardarson, Sverrir Magnússon, Kjartan Gulcher, Jeffrey Stefánsson, Kári Ámundadóttir, Laufey T. |
spellingShingle |
Gudbjartsson, Tómas Jónasdóttir, Thora J. Thoroddsen, Ásgeir Einarsson, Gudmundur V. Jónsdóttir, Gudrún M. Kristjánsson, Kristleifur Hardarson, Sverrir Magnússon, Kjartan Gulcher, Jeffrey Stefánsson, Kári Ámundadóttir, Laufey T. A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
author_facet |
Gudbjartsson, Tómas Jónasdóttir, Thora J. Thoroddsen, Ásgeir Einarsson, Gudmundur V. Jónsdóttir, Gudrún M. Kristjánsson, Kristleifur Hardarson, Sverrir Magnússon, Kjartan Gulcher, Jeffrey Stefánsson, Kári Ámundadóttir, Laufey T. |
author_sort |
Gudbjartsson, Tómas |
title |
A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
title_short |
A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
title_full |
A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
title_fullStr |
A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
title_full_unstemmed |
A population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
title_sort |
population‐based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas |
publisher |
Wiley |
publishDate |
2002 |
url |
http://dx.doi.org/10.1002/ijc.10513 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fijc.10513 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ijc.10513 |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
International Journal of Cancer volume 100, issue 4, page 476-479 ISSN 0020-7136 1097-0215 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1002/ijc.10513 |
container_title |
International Journal of Cancer |
container_volume |
100 |
container_issue |
4 |
container_start_page |
476 |
op_container_end_page |
479 |
_version_ |
1810451309881458688 |