BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

2.50
Hdl Handle:
http://hdl.handle.net/10541/72860
Title:
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.
Authors:
Lalloo, Fiona; Varley, Jennifer; Moran, Anthony; Ellis, David; O'Dair, Lindsay; Pharoah, Paul; Antoniou, Antonis; Hartley, Roger; Shenton, Andrew; Seal, Sheila; Bulman, Barbara; Howell, Anthony ( 0000-0002-3879-5991 ) ; Evans, D Gareth R
Abstract:
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.
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.uk
Citation:
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 2006, 42 (8):1143-50 Eur. J. Cancer
Journal:
European Journal of Cancer
Issue Date:
May-2006
URI:
http://hdl.handle.net/10541/72860
DOI:
10.1016/j.ejca.2005.11.032
PubMed ID:
16644204
Type:
Article
Language:
en
ISSN:
0959-8049
Appears in Collections:
All Christie Publications ; All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
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.en
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

Related articles on PubMed

All Items in Christie are protected by copyright, with all rights reserved, unless otherwise indicated.