Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

• Published in: Journal of medical genetics Vol. 42; no. 7; pp. 602 - 603
• Main Authors: Antoniou, A C, Pharoah, P D P, Narod, S, Risch, H A, Eyfjord, J E, Hopper, J L, Olsson, H, Johannsson, O, Borg, Å, Pasini, B, Radice, P, Manoukian, S, Eccles, D M, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tulinius, H, Thorlacius, S, Eerola, H, Nevanlinna, H, Syrjäkoski, K, Kallioniemi, O-P, Thompson, D, Evans, C, Peto, J, Lalloo, F, Evans, D G, Easton, D F
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.07.2005; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adult; Aged; Ashkenazi; Basic Medicine; Biological and medical sciences; BRCA1/2 penetrance; Breast cancer; Breast Neoplasms - epidemiology; Breast Neoplasms - genetics; Cardiology. Vascular system; Female; Founder Effect; founder mutation; General aspects. Genetic counseling; Genes, BRCA1; Genes, BRCA2; Gynecology. Andrology. Obstetrics; Health risk assessment; Heterozygote; Hormone replacement therapy; Humans; Incidence; Jews - genetics; Letter to JMG; Mammary gland diseases; Medical and Health Sciences; Medical genetics; Medical Genetics and Genomics (including Gene Therapy); Medical sciences; Medicin och hälsovetenskap; Medicinsk genetik och genomik (Här ingår: Genterapi); Medicinska och farmaceutiska grundvetenskaper; meta-analysis; Meta-Analysis as Topic; Middle Aged; Mutation; Ovarian cancer; Ovarian Neoplasms - epidemiology; Ovarian Neoplasms - genetics; Penetrance; Population-based studies; Prevalence; Risk Assessment; Tumors; Human; Ovary cancer; Risk; Breast cancer; Malignant tumor; Female genital diseases; Genetic disease; Mammary gland diseases; Ovarian diseases; Genetic counseling; Risk factor; Genetics; Population; Mutation; Carrier; Tumor suppressor gene
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.024133

A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population.