BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.
Authors
Lalloo, FionaVarley, Jennifer
Moran, Anthony
Ellis, David
O'Dair, Lindsay
Pharoah, Paul
Antoniou, Antonis
Hartley, Roger
Shenton, Andrew
Seal, Sheila
Bulman, Barbara
Howell, Anthony
Evans, D Gareth R
Affiliation
Department of Clinical, Genetics and Academic Unit of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom. fiona.lalloo@cmmc.nhs.ukIssue Date
2006-05
Metadata
Show full item recordAbstract
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 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.Citation
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 2006, 42 (8):1143-50 Eur. J. CancerJournal
European Journal of CancerDOI
10.1016/j.ejca.2005.11.032PubMed ID
16644204Type
ArticleLanguage
enISSN
0959-8049ae974a485f413a2113503eed53cd6c53
10.1016/j.ejca.2005.11.032
Scopus Count
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