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dc.contributor.authorLalloo, Fiona
dc.contributor.authorVarley, Jennifer
dc.contributor.authorMoran, Anthony
dc.contributor.authorEllis, David
dc.contributor.authorO'Dair, Lindsay
dc.contributor.authorPharoah, Paul
dc.contributor.authorAntoniou, Antonis
dc.contributor.authorHartley, Roger
dc.contributor.authorShenton, Andrew
dc.contributor.authorSeal, Sheila
dc.contributor.authorBulman, Barbara
dc.contributor.authorHowell, Anthony
dc.contributor.authorEvans, D Gareth R
dc.date.accessioned2009-07-07T15:36:09Z
dc.date.available2009-07-07T15:36:09Z
dc.date.issued2006-05
dc.identifier.citationBRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 2006, 42 (8):1143-50 Eur. J. Canceren
dc.identifier.issn0959-8049
dc.identifier.pmid16644204
dc.identifier.doi10.1016/j.ejca.2005.11.032
dc.identifier.urihttp://hdl.handle.net/10541/72860
dc.description.abstractPathological 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 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 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.
dc.language.isoenen
dc.subjectBreast Canceren
dc.subject.meshAdenocarcinoma
dc.subject.meshAdult
dc.subject.meshBreast Neoplasms
dc.subject.meshFemale
dc.subject.meshGenes, BRCA1
dc.subject.meshGenes, BRCA2
dc.subject.meshGenes, p53
dc.subject.meshHumans
dc.subject.meshMiddle Aged
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshPenetrance
dc.subject.meshRisk Factors
dc.titleBRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.en
dc.typeArticleen
dc.contributor.departmentDepartment of Clinical, Genetics and Academic Unit of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom. fiona.lalloo@cmmc.nhs.uken
dc.identifier.journalEuropean Journal of Canceren
html.description.abstractPathological 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 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 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.


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