Ane Y Steffensen
Overview
Explore the profile of Ane Y Steffensen including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
168
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0
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Recent Articles
1.
Byrjalsen A, Steffensen A, Hansen T, Wadt K, Gerdes A
Clin Case Rep
. 2017 Jun;
5(6):876-879.
PMID: 28588830
BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based...
2.
Jonson L, Ahlborn L, Steffensen A, Djursby M, Ejlertsen B, Timshel S, et al.
Breast Cancer Res Treat
. 2016 Jan;
155(2):215-22.
PMID: 26740214
Germ-line mutations in the RAD51C gene have recently been identified in families with breast and ovarian cancer and have been associated with an increased risk of ovarian cancer. In this...
3.
Ahlborn L, Dandanell M, Steffensen A, Jonson L, Nielsen F, Hansen T
Breast Cancer Res Treat
. 2015 Mar;
150(2):289-98.
PMID: 25724305
Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient...
4.
Ahlborn L, Steffensen A, Jonson L, Djursby M, Nielsen F, Gerdes A, et al.
Fam Cancer
. 2014 Aug;
14(1):129-33.
PMID: 25154786
Next-generation sequencing has entered routine genetic testing of hereditary breast cancer. It has provided the opportunity to screen multiple genes simultaneously, and consequently has identified new complex genotypes. Here we...
5.
Steffensen A, Dandanell M, Jonson L, Ejlertsen B, Gerdes A, Nielsen F, et al.
Eur J Hum Genet
. 2014 Mar;
22(12):1362-8.
PMID: 24667779
Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense variants, as well as large genomic rearrangements. The...
6.
Thomassen M, Blanco A, Montagna M, Hansen T, Pedersen I, Gutierrez-Enriquez S, et al.
Breast Cancer Res Treat
. 2011 Jul;
132(3):1009-23.
PMID: 21769658
Mutations in BRCA1 and BRCA2 predispose carriers to early onset breast and ovarian cancer. A common problem in clinical genetic testing is interpretation of variants with unknown clinical significance. The...
7.
Hansen T, Jonson L, Steffensen A, Andersen M, Kjaergaard S, Gerdes A, et al.
Fam Cancer
. 2011 Feb;
10(2):207-12.
PMID: 21318380
Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in...
8.
Steffensen A, Jonson L, Ejlertsen B, Gerdes A, Nielsen F, Hansen T
Fam Cancer
. 2010 May;
9(3):283-7.
PMID: 20455026
Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported...
9.
Hansen T, Jonson L, Albrechtsen A, Steffensen A, Bergsten E, Myrhoj T, et al.
Breast Cancer Res Treat
. 2010 May;
124(1):259-64.
PMID: 20437199
Germ-line mutations in the tumour suppressor proteins BRCA1 and BRCA2 predispose to breast and ovarian cancer. We have recently identified a Greenlandic Inuit BRCA1 nucleotide 234T>G/c.115T>G (p.Cys39Gly) founder mutation, which...
10.
Hansen T, Steffensen A, Jonson L, Andersen M, Ejlertsen B, Nielsen F
Breast Cancer Res Treat
. 2009 Mar;
119(3):547-50.
PMID: 19267246
Germ-line mutations in BRCA2 predispose to breast and ovarian cancer. Mutations are widespread throughout the gene and include disease-causing mutations as frameshift, nonsense, splicing mutations and large genomic rearrangements. However...