BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.
Evans, D Gareth R
AffiliationDepartment of Clinical, Genetics and Academic Unit of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom. firstname.lastname@example.org
MetadataShow full item record
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.
CitationBRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 2006, 42 (8):1143-50 Eur. J. Cancer
JournalEuropean Journal of Cancer
- Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families.
- Authors: Arcand SL, Maugard CM, Ghadirian P, Robidoux A, Perret C, Zhang P, Fafard E, Mes-Masson AM, Foulkes WD, Provencher D, Narod SA, Tonin PN
- Issue date: 2008 Apr
- Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.
- Authors: Casey MJ, Synder C, Bewtra C, Narod SA, Watson P, Lynch HT
- Issue date: 2005 May
- BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.
- Authors: Antoniou AC, Durocher F, Smith P, Simard J, Easton DF, INHERIT BRCAs program members.
- Issue date: 2006
- Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.
- Authors: Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, Tapia T, Faundez P, Palma L, Riccio ME, Paredes H, Rodriguez M, Cruz A, Rousseau C, King MC, Camus M, Alvarez M, Carvallo P
- Issue date: 2006 Jan
- The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.
- Authors: Satagopan JM, Offit K, Foulkes W, Robson ME, Wacholder S, Eng CM, Karp SE, Begg CB
- Issue date: 2001 May