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dc.date.accessioned2018-06-11T11:56:38Z
dc.date.issued2006-05
dc.identifier8
dc.identifier.citationEUROPEAN JOURNAL OF CANCER, 2006, 42 pp. 1143 - 1150
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1818
dc.description.abstractBRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer. This study evaluated mutation frequency of these genes in early-onset breast cancer patients, and correlated this with family history and determined relative risks to family members. Patients with breast adenocarcinoma diagnosed \ensuremath<= 30 years were ascertained between 1980 and 1997. Family history was established and mutation screening of BRCA1, BRCA2 and TP53 genes was performed. Estimates of penetrance and relative risk were undertaken. DNA was obtained from 100/139 women. 17/36 familial cases had a BRCA1, BRCA2 or TP53 mutation. Of 64 non-familial cases, one BRCA2, two BRCA1 and two TP53 mutations were detected. Penetrance estimates (by age 70) for breast cancer were 84% for BRCA1 mutations and 91% for BRCA2 mutations and for ovarian cancer, 60% and 26%, respectively Relative risks associated with mutations were consistent with previous studies. BRCA1 and BRCA2 mutations in patients with breast cancer \ensuremath<= 30 years are predicted strongly by family history. The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers. (c) 2006 Elsevier Ltd. All rights reserved.
dc.format.extent1143 - 1150
dc.languageeng
dc.language.isoeng
dc.titleBRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
dc.typeJournal Article
rioxxterms.licenseref.startdate2006-05
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfEUROPEAN JOURNAL OF CANCER
pubs.noteskeywords: BRCA1; BRCA2; TP53; familial breast cancer; family history Population-based series; family-history; ovarian-cancer; genetic-heterogeneity; germline mutations; p53 gene; prevalence; penetrance; tumors
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.volume42
pubs.embargo.termsNot known
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorSeal, Sheilaen


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