Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study
Identifieur interne : 007628 ( Main/Exploration ); précédent : 007627; suivant : 007629Population-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. Pifts [États-Unis] ; EFANG LI [États-Unis] ; Margaret R. E. Mccredie [Nouvelle-Zélande] ; Graham G. Giles [Australie] ; John L. Hopper [Australie] ; Melissa C. Southey [Australie, France]Source :
- Cancer research : (Baltimore) [ 0008-5472 ] ; 2010.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Australie.
- topic : Santé publique, Génétique.
English descriptors
- KwdEn :
Abstract
Although germline TP53 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 TP53 mutations in subgroups of early-onset breast cancer. Germline TP53 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 (a) 52 women diagnosed before age 30 years unselected for family history [very early-onset (VEO)] and (b) 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 TP53 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.
Url:
Affiliations:
- Australie, France, Nouvelle-Zélande, États-Unis
- Auvergne-Rhône-Alpes, Colorado, Rhône-Alpes, Victoria (État)
- Lyon, Melbourne
- Université de Melbourne
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Hopper</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne</s1><s2>Carlton, Victoria</s2><s3>AUS</s3><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne</s1><s2>Carlton, Victoria</s2><s3>AUS</s3><sZ>9 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>IARC</s1><s2>Lyon</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Cancer research : (Baltimore)</title><title level="j" type="abbreviated">Cancer res. : (Baltimore)</title><idno type="ISSN">0008-5472</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Cancer research : (Baltimore)</title><title level="j" type="abbreviated">Cancer res. : (Baltimore)</title><idno type="ISSN">0008-5472</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term><term>Australia</term><term>Breast cancer</term><term>Early</term><term>Family study</term><term>Genetics</term><term>Mutation</term><term>Public health</term><term>Subgroup</term><term>TP53 Gene</term><term>Tumor suppressor gene</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Santé publique</term><term>Gène TP53</term><term>Gène suppresseur tumeur</term><term>Mutation</term><term>Génétique</term><term>Sous groupe</term><term>Précoce</term><term>Age apparition</term><term>Cancer du sein</term><term>Australie</term><term>Etude familiale</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Australie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Santé publique</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Although germline TP53 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 TP53 mutations in subgroups of early-onset breast cancer. Germline TP53 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 (a) 52 women diagnosed before age 30 years unselected for family history [very early-onset (VEO)] and (b) 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 TP53 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.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Nouvelle-Zélande</li><li>États-Unis</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Colorado</li><li>Rhône-Alpes</li><li>Victoria (État)</li></region><settlement><li>Lyon</li><li>Melbourne</li></settlement><orgName><li>Université de Melbourne</li></orgName></list><tree><country name="États-Unis"><region name="Colorado"><name sortKey="Mouchawar, Judy" sort="Mouchawar, Judy" uniqKey="Mouchawar J" first="Judy" last="Mouchawar">Judy Mouchawar</name></region><name sortKey="Byers, Tim" sort="Byers, Tim" uniqKey="Byers T" first="Tim" last="Byers">Tim Byers</name><name sortKey="Efang Li" sort="Efang Li" uniqKey="Efang Li" last="Efang Li">EFANG LI</name><name sortKey="Korch, Christopher" sort="Korch, Christopher" uniqKey="Korch C" first="Christopher" last="Korch">Christopher Korch</name><name sortKey="Pifts, Todd M" sort="Pifts, Todd M" uniqKey="Pifts T" first="Todd M." last="Pifts">Todd M. 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