Functional characterization of BRCA1 gene variants by mini-gene splicing assay-Reference-Cited by-同舟云学术

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Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Published:2014-03-26 Issue:12 Volume:22 Page:1362-1368
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Steffensen Ane Y,Dandanell Mette,Jønson Lars,Ejlertsen Bent,Gerdes Anne-Marie,Nielsen Finn C,Hansen Thomas vO

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201440.pdf

Reference33 articles.

1. Antoniou A, Pharoah PD, Narod S et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72: 1117–1130.

2. King MC, Marks JH, Mandell JB : Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302: 643–646.

3. van der Kolk DM, de Bock GH, Leegte BK et al: Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age. Breast Cancer Res Treat 2010; 124: 643–651.

4. Thomassen M, Hansen TV, Borg A et al: BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. Acta Oncol 2008; 47: 772–777.

5. Hansen TV, Bisgaard ML, Jonson L et al: Novel de novo BRCA2 mutation in a patient with a family history of breast cancer. BMC Med Genet 2008; 9: 58.

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