Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study
Identifieur interne : 000791 ( Ncbi/Merge ); précédent : 000790; suivant : 000792Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study
Auteurs : Judy Mouchawar [États-Unis] ; Christopher Korch [États-Unis] ; Tim Byers [États-Unis] ; Todd M. Pitts [États-Unis] ; Efang Li [États-Unis] ; Margaret R. E. Mccredie [Nouvelle-Zélande] ; Graham G. Giles ; John L. Hopper [Australie] ; Melissa C. Southey [Australie, France]Source :
- Cancer research [ 0008-5472 ] ; 2010.
Abstract
Although germline
Url:
DOI: 10.1158/0008-5472.CAN-09-0851
PubMed: 20501846
PubMed Central: 3228832
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PMC:3228832Le document en format XML
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Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study</title>
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<front><div type="abstract" xml:lang="en"><p id="P1">Although germline <italic>TP53</italic>
mutations have been identified in women with breast cancer from families meeting Li-Fraumeni criteria, their contribution to breast cancer per se is not well known, but is thought to be minimal. We aimed to determine the prevalence of germline <italic>TP53</italic>
mutations in subgroups of early-onset breast cancer. Germline <italic>TP53</italic>
mutation status was assessed by DNA sequencing, screening for heterozygous single-nucleotide polymorphisms, and Multiplex Ligation-Dependent Probe Amplification analyses. From an Australian population-based series of invasive breast cancers, we studied (<italic>a</italic>
) 52 women diagnosed before age 30 years unselected for family history [very early-onset (VEO)] and (<italic>b</italic>
) 42 women diagnosed in their 30s with two or more first- or second-degree relatives with breast or ovarian cancer [early-onset family history (EO-FH)]. Of the VEO group, two (4%) had a mutation: G13203A (exon 6 missense) in a 24-year-old and a large 5,338-bp genomic deletion in a 26-year-old. Neither had a family cancer history that met Li-Fraumeni criteria. Of the EO-FH group, three (7%) had a mutation: T13240G (a known intron 5 splicing mutation) in a 36-year-old from a classic Li-Fraumeni family; G12299A (exon 4 missense) in a 33-year-old from a Li-Fraumeni–like family; and 14058delG (exon 7 frame-shift) in a 39-year-old with a family cancer history that did not meet Li-Fraumeni criteria. Germline <italic>TP53</italic>
mutations play a larger role in early-onset breast cancer than previously thought, and in this context, can be evident outside clinically defined Li-Fraumeni families. <italic>©2010 AACR.</italic>
</p>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">2984705R</journal-id>
<journal-id journal-id-type="pubmed-jr-id">2786</journal-id>
<journal-id journal-id-type="nlm-ta">Cancer Res</journal-id>
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</journal-title-group>
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<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
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</article-categories>
<title-group><article-title>Population-Based Estimate of the Contribution of <italic>TP53</italic>
Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Mouchawar</surname>
<given-names>Judy</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Korch</surname>
<given-names>Christopher</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Byers</surname>
<given-names>Tim</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pitts</surname>
<given-names>Todd M.</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Li</surname>
<given-names>Efang</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McCredie</surname>
<given-names>Margaret R.E.</given-names>
</name>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Giles</surname>
<given-names>Graham G.</given-names>
</name>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hopper</surname>
<given-names>John L.</given-names>
</name>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Southey</surname>
<given-names>Melissa C.</given-names>
</name>
<xref rid="A6" ref-type="aff">6</xref>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Kaiser Permanente Colorado, Denver, Colorado</aff>
<aff id="A2"><label>2</label>
University of Colorado Cancer Center, Aurora, Colorado</aff>
<aff id="A3"><label>3</label>
The University of Otago, Dunedin, New Zealand</aff>
<aff id="A4"><label>4</label>
Cancer Epidemiology Centre, The Cancer Council Victoria</aff>
<aff id="A5"><label>5</label>
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia</aff>
<aff id="A6"><label>6</label>
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Carlton, Victoria, Australia</aff>
<aff id="A7"><label>7</label>
IARC, Lyon, France</aff>
<author-notes><corresp id="FN1">Corresponding Author: John L. Hopper, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia. Phone: 61-3-8344-0697; Fax: 61-3-9349-5815; <email>j.hopper@unimelb.edu.au</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>23</day>
<month>9</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="epub"><day>25</day>
<month>5</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="ppub"><day>15</day>
<month>6</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
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<year>2011</year>
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<volume>70</volume>
<issue>12</issue>
<fpage>4795</fpage>
<lpage>4800</lpage>
<permissions><copyright-statement>©2010 American Association for Cancer Research.</copyright-statement>
<copyright-year>2010</copyright-year>
</permissions>
<abstract><p id="P1">Although germline <italic>TP53</italic>
mutations have been identified in women with breast cancer from families meeting Li-Fraumeni criteria, their contribution to breast cancer per se is not well known, but is thought to be minimal. We aimed to determine the prevalence of germline <italic>TP53</italic>
mutations in subgroups of early-onset breast cancer. Germline <italic>TP53</italic>
mutation status was assessed by DNA sequencing, screening for heterozygous single-nucleotide polymorphisms, and Multiplex Ligation-Dependent Probe Amplification analyses. From an Australian population-based series of invasive breast cancers, we studied (<italic>a</italic>
) 52 women diagnosed before age 30 years unselected for family history [very early-onset (VEO)] and (<italic>b</italic>
) 42 women diagnosed in their 30s with two or more first- or second-degree relatives with breast or ovarian cancer [early-onset family history (EO-FH)]. Of the VEO group, two (4%) had a mutation: G13203A (exon 6 missense) in a 24-year-old and a large 5,338-bp genomic deletion in a 26-year-old. Neither had a family cancer history that met Li-Fraumeni criteria. Of the EO-FH group, three (7%) had a mutation: T13240G (a known intron 5 splicing mutation) in a 36-year-old from a classic Li-Fraumeni family; G12299A (exon 4 missense) in a 33-year-old from a Li-Fraumeni–like family; and 14058delG (exon 7 frame-shift) in a 39-year-old with a family cancer history that did not meet Li-Fraumeni criteria. Germline <italic>TP53</italic>
mutations play a larger role in early-onset breast cancer than previously thought, and in this context, can be evident outside clinically defined Li-Fraumeni families. <italic>©2010 AACR.</italic>
</p>
</abstract>
<funding-group><award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>U01 CA069638-14 || CA</award-id>
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<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
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<award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
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</front>
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<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Nouvelle-Zélande</li>
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<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
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<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
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