Ane Y. Steffensen

发表

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

T. Hansen, F. Nielsen, L. Jønson, 2015, Breast Cancer Research and Treatment.

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

F. Nielsen, A. Gerdes, T. V. Hansen, 2015, Familial Cancer.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

A. Spurdle, C. Lázaro, S. Tognazzo, 2012, Breast Cancer Research and Treatment.

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

T. Hansen, F. Nielsen, A. Gerdes, 2010, Familial Cancer.

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

F. Nielsen, A. Gerdes, B. Ejlertsen, 2016, Breast Cancer Research and Treatment.

Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

A. Albrechtsen, T. Hansen, F. Nielsen, 2010, Breast Cancer Research and Treatment.

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

T. Hansen, F. Nielsen, M. Andersen, 2011, Familial Cancer.

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

F. Nielsen, A. Gerdes, T. V. Hansen, 2015, Familial Cancer.

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

A. Gerdes, A. Byrjalsen, K. Wadt, 2017, Clinical case reports.

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

T. Hansen, F. Nielsen, A. Gerdes, 2014, European Journal of Human Genetics.

The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

T. Hansen, F. Nielsen, M. Andersen, 2010, Breast Cancer Research and Treatment.