References
- Gerdes AM, Crüger DG, Thomassen M, Kruse TA. Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families. Clin Genet 2006; 69: 171–8
- Thomassen M, Kruse TA, Jensen PK, Gerdes AM. A missense mutation in exon 13 in BRCA2, c.7235G > A, results in skipping of exon 13. Genet Test 2006; 10: 116–20
- Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, Brondum-Nielsen K, et al. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet 2001; 10: 353–60
- Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, et al. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res 2007; 67: 1494–501
- Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, et al. Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 2005; 42: 138–46
- Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, et al. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet 2007; 44: 107–21
- Borg A, Dorum A, Heimdal K, Maehle L, Hovig E, Moller P. BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations. Dis Markers 1999; 15: 79–84
- Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999; 91: 1241–7
- Gorski B, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Grzybowska E, et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 2004; 110: 683–6
- Hakansson S, Johannsson O, Johansson U, Sellberg G, Loman N, Gerdes AM, et al. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet 1997; 60: 1068–78
- van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, et al. Cancer risks in BRCA2 families: Estimates for sites other than breast and ovary. J Med Genet 2005; 42: 711–9
- Thomassen M, Gerdes AM, Crüger D, Kruse TA. Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in Western Denmark. Cancer Genet Cytogenet 2006; 168: 168–71
- Bergthorsson J, Ejlertsen B, Olsen JH, Borg A, Nielsen KV, Barkardottir RB, et al. BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. J Med Genet 2001; 38: 361–8