Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population
The true prevalence of BRCA1/BRCA2 ( BRCAs ) germline mutations in sporadic breast or ovarian cancer (SBC/SOC) in Caucasian population is not well established. The aim of the study is to establish the prevalence of BRCAs mutations in SBC to ponder its relevance in the programs of genetic counseling...
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| Veröffentlicht in: | Familial cancer 2012-03, Vol.11 (1), p.49-56 |
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| creator | de Juan Jiménez, Inmaculada Esteban Cardeñosa, Eva Palanca Suela, Sarai Barragán González, Eva Aznar Carretero, Ismael Munárriz Gandía, Blanca Santaballa Bertran, Ana Torregrosa Maicas, María Dolores Guillén Ponce, Carmen Sánchez Heras, Ana Beatriz Bayón Lara, Ana Fuster Lluch, Oscar Bolufer Gilabert, Pascual |
| description | The true prevalence of
BRCA1/BRCA2
(
BRCAs
) germline mutations in sporadic breast or ovarian cancer (SBC/SOC) in Caucasian population is not well established. The aim of the study is to establish the prevalence of
BRCAs
mutations in SBC to ponder its relevance in the programs of genetic counseling in cancer and to explore the genotype-phenotype relationship of these particular breast cancers. The study was performed in 495 SBC. We sought 46
BRCA1
and 53
BRCA2
pathogenic mutations reported in the Spanish population. We followed a high resolution melting method performed in the LightCycler 480 (Roche Diagnostics) for the screening of these Spanish mutations using 49 primer pairs. Eight different deleterious mutations, one of them novel, were detected in nine patients, five without family history of BC/OC, what yields a true prevalence of 1.05% for
BRCAs
mutations in SBC. Furthermore, we found 18 unknown variants. Larger tumour size (T > 1) and earlier presentation are the independent parameters associated with the presence of
BRCAs
pathogenic mutations in SBC (
P
|
| doi_str_mv | 10.1007/s10689-011-9481-7 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_927686502</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>927686502</sourcerecordid><originalsourceid>FETCH-LOGICAL-c370t-8a53abd59bf5ec0e6d1406fb97486d557ea6e67f707323f6583e44623db4ea9e3</originalsourceid><addsrcrecordid>eNp1kMtKxDAUhoMojo4-gBsJblxVc2mSZjkO3mBA8LIOaXvqdOg0NWkV397MRQXBVQ6c7_-TfAidUHJBCVGXgRKZ6YRQmug0o4naQQdUKJ4optlunHncaknICB2GsCCEEcbVPhoxqmmWCX6AzMx94M7Du22gLQC7Cl89TicU27ZcTwwvh972tWsDrlvczwGHznlb1gXOPdjQ48LGpF9Fnzrb1mGOO9cNzTp0hPYq2wQ43p5j9HJz_Ty9S2YPt_fTySwpuCJ9klnBbV4KnVcCCgKypCmRVa5VmslSCAVWglSVIoozXkmRcUhTyXiZp2A18DE63_R23r0NEHqzrEMBTWNbcEMwmimZSRH_P0Znf8iFG3wbHxchqYmWMo0Q3UCFdyF4qEzn66X1n4YSs3JvNu5NdG9W7o2KmdNt8ZAvofxJfMuOANsAIa7aV_C_N__f-gUvbY18</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>926909664</pqid></control><display><type>article</type><title>Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>de Juan Jiménez, Inmaculada ; Esteban Cardeñosa, Eva ; Palanca Suela, Sarai ; Barragán González, Eva ; Aznar Carretero, Ismael ; Munárriz Gandía, Blanca ; Santaballa Bertran, Ana ; Torregrosa Maicas, María Dolores ; Guillén Ponce, Carmen ; Sánchez Heras, Ana Beatriz ; Bayón Lara, Ana ; Fuster Lluch, Oscar ; Bolufer Gilabert, Pascual</creator><creatorcontrib>de Juan Jiménez, Inmaculada ; Esteban Cardeñosa, Eva ; Palanca Suela, Sarai ; Barragán González, Eva ; Aznar Carretero, Ismael ; Munárriz Gandía, Blanca ; Santaballa Bertran, Ana ; Torregrosa Maicas, María Dolores ; Guillén Ponce, Carmen ; Sánchez Heras, Ana Beatriz ; Bayón Lara, Ana ; Fuster Lluch, Oscar ; Bolufer Gilabert, Pascual</creatorcontrib><description>The true prevalence of
BRCA1/BRCA2
(
BRCAs
) germline mutations in sporadic breast or ovarian cancer (SBC/SOC) in Caucasian population is not well established. The aim of the study is to establish the prevalence of
BRCAs
mutations in SBC to ponder its relevance in the programs of genetic counseling in cancer and to explore the genotype-phenotype relationship of these particular breast cancers. The study was performed in 495 SBC. We sought 46
BRCA1
and 53
BRCA2
pathogenic mutations reported in the Spanish population. We followed a high resolution melting method performed in the LightCycler 480 (Roche Diagnostics) for the screening of these Spanish mutations using 49 primer pairs. Eight different deleterious mutations, one of them novel, were detected in nine patients, five without family history of BC/OC, what yields a true prevalence of 1.05% for
BRCAs
mutations in SBC. Furthermore, we found 18 unknown variants. Larger tumour size (T > 1) and earlier presentation are the independent parameters associated with the presence of
BRCAs
pathogenic mutations in SBC (
P
< 0.01) and the
BRCA1
mutations carriers develop steroid—receptors negative tumors. Our results indicate that the true prevalence of
BRCAs
germline deleterious mutations in SBC of Spaniards is low. However, this does not lessens its relevance since the presence of
BRCAs
mutations in SBC could represent circa 16% of total
BRCAs
mutations detected in BC. SBCs of
BRCAs
mutation carriers have phenotype more aggressiveness than SBC without BRCAs mutation.</description><identifier>ISSN: 1389-9600</identifier><identifier>EISSN: 1573-7292</identifier><identifier>DOI: 10.1007/s10689-011-9481-7</identifier><identifier>PMID: 21918853</identifier><identifier>CODEN: FCAAAJ</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Biomedical and Life Sciences ; Biomedicine ; BRCA1 Protein - genetics ; BRCA2 Protein - genetics ; Breast Neoplasms - epidemiology ; Breast Neoplasms - genetics ; Breast Neoplasms - pathology ; Cancer Research ; Carcinoma, Ductal, Breast - epidemiology ; Carcinoma, Ductal, Breast - genetics ; Carcinoma, Ductal, Breast - secondary ; Carcinoma, Intraductal, Noninfiltrating - epidemiology ; Carcinoma, Intraductal, Noninfiltrating - genetics ; Carcinoma, Intraductal, Noninfiltrating - secondary ; Carcinoma, Lobular - epidemiology ; Carcinoma, Lobular - genetics ; Carcinoma, Lobular - secondary ; Epidemiology ; European Continental Ancestry Group - genetics ; Female ; Genetic Predisposition to Disease ; Human Genetics ; Humans ; Male ; Middle Aged ; Mutation - genetics ; Original Article ; Ovarian Neoplasms - epidemiology ; Ovarian Neoplasms - genetics ; Ovarian Neoplasms - pathology ; Pedigree ; Spain - epidemiology</subject><ispartof>Familial cancer, 2012-03, Vol.11 (1), p.49-56</ispartof><rights>Springer Science+Business Media B.V. 2011</rights><rights>Springer Science+Business Media B.V. 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c370t-8a53abd59bf5ec0e6d1406fb97486d557ea6e67f707323f6583e44623db4ea9e3</citedby><cites>FETCH-LOGICAL-c370t-8a53abd59bf5ec0e6d1406fb97486d557ea6e67f707323f6583e44623db4ea9e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10689-011-9481-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10689-011-9481-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21918853$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de Juan Jiménez, Inmaculada</creatorcontrib><creatorcontrib>Esteban Cardeñosa, Eva</creatorcontrib><creatorcontrib>Palanca Suela, Sarai</creatorcontrib><creatorcontrib>Barragán González, Eva</creatorcontrib><creatorcontrib>Aznar Carretero, Ismael</creatorcontrib><creatorcontrib>Munárriz Gandía, Blanca</creatorcontrib><creatorcontrib>Santaballa Bertran, Ana</creatorcontrib><creatorcontrib>Torregrosa Maicas, María Dolores</creatorcontrib><creatorcontrib>Guillén Ponce, Carmen</creatorcontrib><creatorcontrib>Sánchez Heras, Ana Beatriz</creatorcontrib><creatorcontrib>Bayón Lara, Ana</creatorcontrib><creatorcontrib>Fuster Lluch, Oscar</creatorcontrib><creatorcontrib>Bolufer Gilabert, Pascual</creatorcontrib><title>Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population</title><title>Familial cancer</title><addtitle>Familial Cancer</addtitle><addtitle>Fam Cancer</addtitle><description>The true prevalence of
BRCA1/BRCA2
(
BRCAs
) germline mutations in sporadic breast or ovarian cancer (SBC/SOC) in Caucasian population is not well established. The aim of the study is to establish the prevalence of
BRCAs
mutations in SBC to ponder its relevance in the programs of genetic counseling in cancer and to explore the genotype-phenotype relationship of these particular breast cancers. The study was performed in 495 SBC. We sought 46
BRCA1
and 53
BRCA2
pathogenic mutations reported in the Spanish population. We followed a high resolution melting method performed in the LightCycler 480 (Roche Diagnostics) for the screening of these Spanish mutations using 49 primer pairs. Eight different deleterious mutations, one of them novel, were detected in nine patients, five without family history of BC/OC, what yields a true prevalence of 1.05% for
BRCAs
mutations in SBC. Furthermore, we found 18 unknown variants. Larger tumour size (T > 1) and earlier presentation are the independent parameters associated with the presence of
BRCAs
pathogenic mutations in SBC (
P
< 0.01) and the
BRCA1
mutations carriers develop steroid—receptors negative tumors. Our results indicate that the true prevalence of
BRCAs
germline deleterious mutations in SBC of Spaniards is low. However, this does not lessens its relevance since the presence of
BRCAs
mutations in SBC could represent circa 16% of total
BRCAs
mutations detected in BC. SBCs of
BRCAs
mutation carriers have phenotype more aggressiveness than SBC without BRCAs mutation.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast Neoplasms - epidemiology</subject><subject>Breast Neoplasms - genetics</subject><subject>Breast Neoplasms - pathology</subject><subject>Cancer Research</subject><subject>Carcinoma, Ductal, Breast - epidemiology</subject><subject>Carcinoma, Ductal, Breast - genetics</subject><subject>Carcinoma, Ductal, Breast - secondary</subject><subject>Carcinoma, Intraductal, Noninfiltrating - epidemiology</subject><subject>Carcinoma, Intraductal, Noninfiltrating - genetics</subject><subject>Carcinoma, Intraductal, Noninfiltrating - secondary</subject><subject>Carcinoma, Lobular - epidemiology</subject><subject>Carcinoma, Lobular - genetics</subject><subject>Carcinoma, Lobular - secondary</subject><subject>Epidemiology</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Original Article</subject><subject>Ovarian Neoplasms - epidemiology</subject><subject>Ovarian Neoplasms - genetics</subject><subject>Ovarian Neoplasms - pathology</subject><subject>Pedigree</subject><subject>Spain - epidemiology</subject><issn>1389-9600</issn><issn>1573-7292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kMtKxDAUhoMojo4-gBsJblxVc2mSZjkO3mBA8LIOaXvqdOg0NWkV397MRQXBVQ6c7_-TfAidUHJBCVGXgRKZ6YRQmug0o4naQQdUKJ4optlunHncaknICB2GsCCEEcbVPhoxqmmWCX6AzMx94M7Du22gLQC7Cl89TicU27ZcTwwvh972tWsDrlvczwGHznlb1gXOPdjQ48LGpF9Fnzrb1mGOO9cNzTp0hPYq2wQ43p5j9HJz_Ty9S2YPt_fTySwpuCJ9klnBbV4KnVcCCgKypCmRVa5VmslSCAVWglSVIoozXkmRcUhTyXiZp2A18DE63_R23r0NEHqzrEMBTWNbcEMwmimZSRH_P0Znf8iFG3wbHxchqYmWMo0Q3UCFdyF4qEzn66X1n4YSs3JvNu5NdG9W7o2KmdNt8ZAvofxJfMuOANsAIa7aV_C_N__f-gUvbY18</recordid><startdate>20120301</startdate><enddate>20120301</enddate><creator>de Juan Jiménez, Inmaculada</creator><creator>Esteban Cardeñosa, Eva</creator><creator>Palanca Suela, Sarai</creator><creator>Barragán González, Eva</creator><creator>Aznar Carretero, Ismael</creator><creator>Munárriz Gandía, Blanca</creator><creator>Santaballa Bertran, Ana</creator><creator>Torregrosa Maicas, María Dolores</creator><creator>Guillén Ponce, Carmen</creator><creator>Sánchez Heras, Ana Beatriz</creator><creator>Bayón Lara, Ana</creator><creator>Fuster Lluch, Oscar</creator><creator>Bolufer Gilabert, Pascual</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><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>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</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>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20120301</creationdate><title>Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population</title><author>de Juan Jiménez, Inmaculada ; Esteban Cardeñosa, Eva ; Palanca Suela, Sarai ; Barragán González, Eva ; Aznar Carretero, Ismael ; Munárriz Gandía, Blanca ; Santaballa Bertran, Ana ; Torregrosa Maicas, María Dolores ; Guillén Ponce, Carmen ; Sánchez Heras, Ana Beatriz ; Bayón Lara, Ana ; Fuster Lluch, Oscar ; Bolufer Gilabert, Pascual</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c370t-8a53abd59bf5ec0e6d1406fb97486d557ea6e67f707323f6583e44623db4ea9e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>BRCA1 Protein - genetics</topic><topic>BRCA2 Protein - genetics</topic><topic>Breast Neoplasms - epidemiology</topic><topic>Breast Neoplasms - genetics</topic><topic>Breast Neoplasms - pathology</topic><topic>Cancer Research</topic><topic>Carcinoma, Ductal, Breast - epidemiology</topic><topic>Carcinoma, Ductal, Breast - genetics</topic><topic>Carcinoma, Ductal, Breast - secondary</topic><topic>Carcinoma, Intraductal, Noninfiltrating - epidemiology</topic><topic>Carcinoma, Intraductal, Noninfiltrating - genetics</topic><topic>Carcinoma, Intraductal, Noninfiltrating - secondary</topic><topic>Carcinoma, Lobular - epidemiology</topic><topic>Carcinoma, Lobular - genetics</topic><topic>Carcinoma, Lobular - secondary</topic><topic>Epidemiology</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Original Article</topic><topic>Ovarian Neoplasms - epidemiology</topic><topic>Ovarian Neoplasms - genetics</topic><topic>Ovarian Neoplasms - pathology</topic><topic>Pedigree</topic><topic>Spain - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Juan Jiménez, Inmaculada</creatorcontrib><creatorcontrib>Esteban Cardeñosa, Eva</creatorcontrib><creatorcontrib>Palanca Suela, Sarai</creatorcontrib><creatorcontrib>Barragán González, Eva</creatorcontrib><creatorcontrib>Aznar Carretero, Ismael</creatorcontrib><creatorcontrib>Munárriz Gandía, Blanca</creatorcontrib><creatorcontrib>Santaballa Bertran, Ana</creatorcontrib><creatorcontrib>Torregrosa Maicas, María Dolores</creatorcontrib><creatorcontrib>Guillén Ponce, Carmen</creatorcontrib><creatorcontrib>Sánchez Heras, Ana Beatriz</creatorcontrib><creatorcontrib>Bayón Lara, Ana</creatorcontrib><creatorcontrib>Fuster Lluch, Oscar</creatorcontrib><creatorcontrib>Bolufer Gilabert, Pascual</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Familial cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>de Juan Jiménez, Inmaculada</au><au>Esteban Cardeñosa, Eva</au><au>Palanca Suela, Sarai</au><au>Barragán González, Eva</au><au>Aznar Carretero, Ismael</au><au>Munárriz Gandía, Blanca</au><au>Santaballa Bertran, Ana</au><au>Torregrosa Maicas, María Dolores</au><au>Guillén Ponce, Carmen</au><au>Sánchez Heras, Ana Beatriz</au><au>Bayón Lara, Ana</au><au>Fuster Lluch, Oscar</au><au>Bolufer Gilabert, Pascual</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population</atitle><jtitle>Familial cancer</jtitle><stitle>Familial Cancer</stitle><addtitle>Fam Cancer</addtitle><date>2012-03-01</date><risdate>2012</risdate><volume>11</volume><issue>1</issue><spage>49</spage><epage>56</epage><pages>49-56</pages><issn>1389-9600</issn><eissn>1573-7292</eissn><coden>FCAAAJ</coden><abstract>The true prevalence of
BRCA1/BRCA2
(
BRCAs
) germline mutations in sporadic breast or ovarian cancer (SBC/SOC) in Caucasian population is not well established. The aim of the study is to establish the prevalence of
BRCAs
mutations in SBC to ponder its relevance in the programs of genetic counseling in cancer and to explore the genotype-phenotype relationship of these particular breast cancers. The study was performed in 495 SBC. We sought 46
BRCA1
and 53
BRCA2
pathogenic mutations reported in the Spanish population. We followed a high resolution melting method performed in the LightCycler 480 (Roche Diagnostics) for the screening of these Spanish mutations using 49 primer pairs. Eight different deleterious mutations, one of them novel, were detected in nine patients, five without family history of BC/OC, what yields a true prevalence of 1.05% for
BRCAs
mutations in SBC. Furthermore, we found 18 unknown variants. Larger tumour size (T > 1) and earlier presentation are the independent parameters associated with the presence of
BRCAs
pathogenic mutations in SBC (
P
< 0.01) and the
BRCA1
mutations carriers develop steroid—receptors negative tumors. Our results indicate that the true prevalence of
BRCAs
germline deleterious mutations in SBC of Spaniards is low. However, this does not lessens its relevance since the presence of
BRCAs
mutations in SBC could represent circa 16% of total
BRCAs
mutations detected in BC. SBCs of
BRCAs
mutation carriers have phenotype more aggressiveness than SBC without BRCAs mutation.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>21918853</pmid><doi>10.1007/s10689-011-9481-7</doi><tpages>8</tpages></addata></record> |
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| identifier | ISSN: 1389-9600 |
| ispartof | Familial cancer, 2012-03, Vol.11 (1), p.49-56 |
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| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Adult Aged Aged, 80 and over Biomedical and Life Sciences Biomedicine BRCA1 Protein - genetics BRCA2 Protein - genetics Breast Neoplasms - epidemiology Breast Neoplasms - genetics Breast Neoplasms - pathology Cancer Research Carcinoma, Ductal, Breast - epidemiology Carcinoma, Ductal, Breast - genetics Carcinoma, Ductal, Breast - secondary Carcinoma, Intraductal, Noninfiltrating - epidemiology Carcinoma, Intraductal, Noninfiltrating - genetics Carcinoma, Intraductal, Noninfiltrating - secondary Carcinoma, Lobular - epidemiology Carcinoma, Lobular - genetics Carcinoma, Lobular - secondary Epidemiology European Continental Ancestry Group - genetics Female Genetic Predisposition to Disease Human Genetics Humans Male Middle Aged Mutation - genetics Original Article Ovarian Neoplasms - epidemiology Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Pedigree Spain - epidemiology |
| title | Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population |
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