Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR) for analyzing familial aggregat...

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Autores principales:	Eevi Kaasinen, Mervi Aavikko, Pia Vahteristo, Toni Patama, Yilong Li, Silva Saarinen, Outi Kilpivaara, Esa Pitkänen, Paul Knekt, Maarit Laaksonen, Miia Artama, Rainer Lehtonen, Lauri A Aaltonen, Eero Pukkala
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/812c7bb3d94f4f18866c33d8d4e3fb1d
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id	oai:doaj.org-article:812c7bb3d94f4f18866c33d8d4e3fb1d
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spelling	oai:doaj.org-article:812c7bb3d94f4f18866c33d8d4e3fb1d2021-11-18T07:59:59ZNationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.1932-620310.1371/journal.pone.0055209https://doaj.org/article/812c7bb3d94f4f18866c33d8d4e3fb1d2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23365693/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR) for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer susceptibility conditions. We performed a systematic clustering of 878,593 patients in FCR based on family name at birth, municipality of birth, and tumor type, diagnosed between years 1952 and 2011. We also estimated the familial occurrence of the tumor types using cluster score that reflects the proportion of patients belonging to the most significant clusters compared to all patients in Finland. The clustering effort identified 25,910 birth name-municipality based clusters representing 183 different tumor types characterized by topography and morphology. We produced information about familial occurrence of hundreds of tumor types, and many of the tumor types with high cluster score represented known cancer syndromes. Unexpectedly, Kaposi sarcoma (KS) also produced a very high score (cluster score 1.91, p-value <0.0001). We verified from population records that many of the KS patients forming the clusters were indeed close relatives, and identified one family with five affected individuals in two generations and several families with two first degree relatives. Our approach is unique in enabling systematic examination of a national epidemiological database to derive evidence of aberrant familial aggregation of all tumor types, both common and rare. It allowed effortless identification of families displaying features of both known as well as potentially novel cancer predisposition conditions, including striking familial aggregation of KS. Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions found in this study.Eevi KaasinenMervi AavikkoPia VahteristoToni PatamaYilong LiSilva SaarinenOuti KilpivaaraEsa PitkänenPaul KnektMaarit LaaksonenMiia ArtamaRainer LehtonenLauri A AaltonenEero PukkalaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 1, p e55209 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Eevi Kaasinen Mervi Aavikko Pia Vahteristo Toni Patama Yilong Li Silva Saarinen Outi Kilpivaara Esa Pitkänen Paul Knekt Maarit Laaksonen Miia Artama Rainer Lehtonen Lauri A Aaltonen Eero Pukkala Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
description	Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR) for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer susceptibility conditions. We performed a systematic clustering of 878,593 patients in FCR based on family name at birth, municipality of birth, and tumor type, diagnosed between years 1952 and 2011. We also estimated the familial occurrence of the tumor types using cluster score that reflects the proportion of patients belonging to the most significant clusters compared to all patients in Finland. The clustering effort identified 25,910 birth name-municipality based clusters representing 183 different tumor types characterized by topography and morphology. We produced information about familial occurrence of hundreds of tumor types, and many of the tumor types with high cluster score represented known cancer syndromes. Unexpectedly, Kaposi sarcoma (KS) also produced a very high score (cluster score 1.91, p-value <0.0001). We verified from population records that many of the KS patients forming the clusters were indeed close relatives, and identified one family with five affected individuals in two generations and several families with two first degree relatives. Our approach is unique in enabling systematic examination of a national epidemiological database to derive evidence of aberrant familial aggregation of all tumor types, both common and rare. It allowed effortless identification of families displaying features of both known as well as potentially novel cancer predisposition conditions, including striking familial aggregation of KS. Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions found in this study.
format	article
author	Eevi Kaasinen Mervi Aavikko Pia Vahteristo Toni Patama Yilong Li Silva Saarinen Outi Kilpivaara Esa Pitkänen Paul Knekt Maarit Laaksonen Miia Artama Rainer Lehtonen Lauri A Aaltonen Eero Pukkala
author_facet	Eevi Kaasinen Mervi Aavikko Pia Vahteristo Toni Patama Yilong Li Silva Saarinen Outi Kilpivaara Esa Pitkänen Paul Knekt Maarit Laaksonen Miia Artama Rainer Lehtonen Lauri A Aaltonen Eero Pukkala
author_sort	Eevi Kaasinen
title	Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
title_short	Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
title_full	Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
title_fullStr	Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
title_full_unstemmed	Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
title_sort	nationwide registry-based analysis of cancer clustering detects strong familial occurrence of kaposi sarcoma.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/812c7bb3d94f4f18866c33d8d4e3fb1d
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Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

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