AustralieFrV1, Ncbi, Curation, bibRecord, 000791

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/Curation ); précédent : 000790; suivant : 000792

Population-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.

RBID : PMC:3228832

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. ©2010 AACR.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228832

DOI: 10.1158/0008-5472.CAN-09-0851
PubMed: 20501846
PubMed Central: 3228832

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Graham G. Giles

<affiliation><nlm:aff id="A4">Cancer Epidemiology Centre, The Cancer Council Victoria</nlm:aff>
<wicri:noCountry code="subfield">The Cancer Council Victoria</wicri:noCountry>
</affiliation>

Le document en format XML

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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>
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Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study

Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study

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