Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology
The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 ye...
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creator | Lubiński, Jan Korzeń, Marcin Górski, Bohdan Cybulski, Cezary Dębniak, Tadeusz Jakubowska, Anna Jaworska, Katarzyna Wokołorczyk, Dominika Mędrek, Krzysztof Matyjasik, Joanna Huzarski, Tomasz Byrski, Tomasz Gronwald, Jacek Masojć, Bartłomiej Lener, Marcin Szymańska, Anna Szymańska-Pasternak, Jolanta Serrano-Fernàndez, Pablo Piegat, Andrzej Uciński, Rafał Domagała, Paweł Domagała, Wenancjusz Chosia, Maria Kładny, Józef Górecka, Barbara Narod, Steven Scott, Rodney |
description | The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes--99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67. |
doi_str_mv | 10.1007/s10549-008-9974-8 |
format | Article |
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Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes--99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67.</description><identifier>ISSN: 0167-6806</identifier><identifier>EISSN: 1573-7217</identifier><identifier>DOI: 10.1007/s10549-008-9974-8</identifier><identifier>PMID: 18415014</identifier><identifier>CODEN: BCTRD6</identifier><language>eng</language><publisher>Boston: Boston : Springer US</publisher><subject>Age Factors ; Biological and medical sciences ; Biomarkers, Tumor - analysis ; Breast cancer ; Breast Neoplasms - genetics ; Breast Neoplasms - pathology ; Cancer research ; Cancer therapies ; Epidemiology ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genetics ; Gynecology. Andrology. Obstetrics ; Humans ; Mammary gland diseases ; Medical sciences ; Medicine ; Medicine & Public Health ; Middle Aged ; Models, Biological ; Oncology ; Poland ; Polymorphism ; Polymorphism, Genetic ; Tumors</subject><ispartof>Breast cancer research and treatment, 2009-03, Vol.114 (1), p.121-126</ispartof><rights>Springer Science+Business Media, LLC. 2008</rights><rights>2009 INIST-CNRS</rights><rights>Springer Science+Business Media, LLC. 2009</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c531t-3749323b9e4d8855dabb94a52d4f1b1b44b91365363ceb595a1b3486eab03ff3</citedby><cites>FETCH-LOGICAL-c531t-3749323b9e4d8855dabb94a52d4f1b1b44b91365363ceb595a1b3486eab03ff3</cites><orcidid>0000-0002-5650-0501 ; 0000-0001-6482-1498</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10549-008-9974-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10549-008-9974-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21107121$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18415014$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-00478330$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Lubiński, Jan</creatorcontrib><creatorcontrib>Korzeń, Marcin</creatorcontrib><creatorcontrib>Górski, Bohdan</creatorcontrib><creatorcontrib>Cybulski, Cezary</creatorcontrib><creatorcontrib>Dębniak, Tadeusz</creatorcontrib><creatorcontrib>Jakubowska, Anna</creatorcontrib><creatorcontrib>Jaworska, Katarzyna</creatorcontrib><creatorcontrib>Wokołorczyk, Dominika</creatorcontrib><creatorcontrib>Mędrek, Krzysztof</creatorcontrib><creatorcontrib>Matyjasik, Joanna</creatorcontrib><creatorcontrib>Huzarski, Tomasz</creatorcontrib><creatorcontrib>Byrski, Tomasz</creatorcontrib><creatorcontrib>Gronwald, Jacek</creatorcontrib><creatorcontrib>Masojć, Bartłomiej</creatorcontrib><creatorcontrib>Lener, Marcin</creatorcontrib><creatorcontrib>Szymańska, Anna</creatorcontrib><creatorcontrib>Szymańska-Pasternak, Jolanta</creatorcontrib><creatorcontrib>Serrano-Fernàndez, Pablo</creatorcontrib><creatorcontrib>Piegat, Andrzej</creatorcontrib><creatorcontrib>Uciński, Rafał</creatorcontrib><creatorcontrib>Domagała, Paweł</creatorcontrib><creatorcontrib>Domagała, Wenancjusz</creatorcontrib><creatorcontrib>Chosia, Maria</creatorcontrib><creatorcontrib>Kładny, Józef</creatorcontrib><creatorcontrib>Górecka, Barbara</creatorcontrib><creatorcontrib>Narod, Steven</creatorcontrib><creatorcontrib>Scott, Rodney</creatorcontrib><title>Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology</title><title>Breast cancer research and treatment</title><addtitle>Breast Cancer Res Treat</addtitle><addtitle>Breast Cancer Res Treat</addtitle><description>The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes--99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67.</description><subject>Age Factors</subject><subject>Biological and medical sciences</subject><subject>Biomarkers, Tumor - analysis</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - genetics</subject><subject>Breast Neoplasms - pathology</subject><subject>Cancer research</subject><subject>Cancer therapies</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Mammary gland diseases</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Models, Biological</subject><subject>Oncology</subject><subject>Poland</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Tumors</subject><issn>0167-6806</issn><issn>1573-7217</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFks9u1DAQxiMEoqXwAFzAQgKJQ2DGf2Knt6qCFmklkChny06crKskXuwEaV-GZ8XbrFqJA5wseX7f5288UxQvET4ggPyYEASvSwBV1rXkpXpUnKKQrJQU5ePiFLCSZaWgOimepXQLALWE-mlxgoqjAOSnxe8rN7nZN6QJ0xy9XWYfJjIHYoaBNGZqXEznZN460vmYZtK6MUxpjuaOW5Kf-rvqGFo3kNARG53J3FFKuhhG8i0MZmrJKuu8a4ndE9M7YrKhN_0Ukk_kgMzLGJZIdmbehiH0--fFk84Myb04nmfFzedPN5fX5ebr1ZfLi03ZCIZzySSvGWW2drxVSojWWFtzI2jLO7RoObc1skqwijXOiloYtIyryhkLrOvYWfF-td2aQe-iH03c62C8vr7Y6MMdAJeKMfiFmX23srsYfi4uzXr0qXFDbtGFJemqUoIyIf4LUuDAqxoy-OYv8DZ_wpT71RQplwyEyhCuUBNDStF19zkR9GEb9LoNOarSh23QB82ro_FiR9c-KI7jz8DbI2BSY4Yu5qn5dM9RRJBIDz3TlUu5NPUuPiT81-uvV1FngjZ9zMY_vlNABiiUZLRifwAqi9bE</recordid><startdate>20090301</startdate><enddate>20090301</enddate><creator>Lubiński, Jan</creator><creator>Korzeń, Marcin</creator><creator>Górski, Bohdan</creator><creator>Cybulski, Cezary</creator><creator>Dębniak, Tadeusz</creator><creator>Jakubowska, Anna</creator><creator>Jaworska, Katarzyna</creator><creator>Wokołorczyk, Dominika</creator><creator>Mędrek, Krzysztof</creator><creator>Matyjasik, Joanna</creator><creator>Huzarski, Tomasz</creator><creator>Byrski, Tomasz</creator><creator>Gronwald, Jacek</creator><creator>Masojć, Bartłomiej</creator><creator>Lener, Marcin</creator><creator>Szymańska, Anna</creator><creator>Szymańska-Pasternak, Jolanta</creator><creator>Serrano-Fernàndez, Pablo</creator><creator>Piegat, Andrzej</creator><creator>Uciński, Rafał</creator><creator>Domagała, Paweł</creator><creator>Domagała, Wenancjusz</creator><creator>Chosia, Maria</creator><creator>Kładny, Józef</creator><creator>Górecka, Barbara</creator><creator>Narod, Steven</creator><creator>Scott, Rodney</creator><general>Boston : Springer US</general><general>Springer US</general><general>Springer</general><general>Springer Nature B.V</general><general>Springer Verlag</general><scope>FBQ</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0002-5650-0501</orcidid><orcidid>https://orcid.org/0000-0001-6482-1498</orcidid></search><sort><creationdate>20090301</creationdate><title>Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology</title><author>Lubiński, Jan ; Korzeń, Marcin ; Górski, Bohdan ; Cybulski, Cezary ; Dębniak, Tadeusz ; Jakubowska, Anna ; Jaworska, Katarzyna ; Wokołorczyk, Dominika ; Mędrek, Krzysztof ; Matyjasik, Joanna ; Huzarski, Tomasz ; Byrski, Tomasz ; Gronwald, Jacek ; Masojć, Bartłomiej ; Lener, Marcin ; Szymańska, Anna ; Szymańska-Pasternak, Jolanta ; Serrano-Fernàndez, Pablo ; Piegat, Andrzej ; Uciński, Rafał ; Domagała, Paweł ; Domagała, Wenancjusz ; Chosia, Maria ; Kładny, Józef ; Górecka, Barbara ; Narod, Steven ; Scott, Rodney</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c531t-3749323b9e4d8855dabb94a52d4f1b1b44b91365363ceb595a1b3486eab03ff3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Age Factors</topic><topic>Biological and medical sciences</topic><topic>Biomarkers, Tumor - analysis</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - genetics</topic><topic>Breast Neoplasms - pathology</topic><topic>Cancer research</topic><topic>Cancer therapies</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics</topic><topic>Gynecology. Andrology. 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Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>Breast cancer research and treatment</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lubiński, Jan</au><au>Korzeń, Marcin</au><au>Górski, Bohdan</au><au>Cybulski, Cezary</au><au>Dębniak, Tadeusz</au><au>Jakubowska, Anna</au><au>Jaworska, Katarzyna</au><au>Wokołorczyk, Dominika</au><au>Mędrek, Krzysztof</au><au>Matyjasik, Joanna</au><au>Huzarski, Tomasz</au><au>Byrski, Tomasz</au><au>Gronwald, Jacek</au><au>Masojć, Bartłomiej</au><au>Lener, Marcin</au><au>Szymańska, Anna</au><au>Szymańska-Pasternak, Jolanta</au><au>Serrano-Fernàndez, Pablo</au><au>Piegat, Andrzej</au><au>Uciński, Rafał</au><au>Domagała, Paweł</au><au>Domagała, Wenancjusz</au><au>Chosia, Maria</au><au>Kładny, Józef</au><au>Górecka, Barbara</au><au>Narod, Steven</au><au>Scott, Rodney</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology</atitle><jtitle>Breast cancer research and treatment</jtitle><stitle>Breast Cancer Res Treat</stitle><addtitle>Breast Cancer Res Treat</addtitle><date>2009-03-01</date><risdate>2009</risdate><volume>114</volume><issue>1</issue><spage>121</spage><epage>126</epage><pages>121-126</pages><issn>0167-6806</issn><eissn>1573-7217</eissn><coden>BCTRD6</coden><abstract>The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes--99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67.</abstract><cop>Boston</cop><pub>Boston : Springer US</pub><pmid>18415014</pmid><doi>10.1007/s10549-008-9974-8</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-5650-0501</orcidid><orcidid>https://orcid.org/0000-0001-6482-1498</orcidid><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0167-6806 |
ispartof | Breast cancer research and treatment, 2009-03, Vol.114 (1), p.121-126 |
issn | 0167-6806 1573-7217 |
language | eng |
recordid | cdi_hal_primary_oai_HAL_hal_00478330v1 |
source | MEDLINE; Springer Nature - Complete Springer Journals |
subjects | Age Factors Biological and medical sciences Biomarkers, Tumor - analysis Breast cancer Breast Neoplasms - genetics Breast Neoplasms - pathology Cancer research Cancer therapies Epidemiology Female Genetic Markers Genetic Predisposition to Disease Genetics Gynecology. Andrology. Obstetrics Humans Mammary gland diseases Medical sciences Medicine Medicine & Public Health Middle Aged Models, Biological Oncology Poland Polymorphism Polymorphism, Genetic Tumors |
title | Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology |
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