B. Blümcke

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

A. Rump, J. Ramser, A. Meindl, 2022, BMC Cancer.

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer

A. Meindl, R. Schmutzler, H. Hellebrand, 2017, European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

J. Ramser, A. Meindl, R. Schmutzler, 2018, Breast Cancer Research.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

R. Schmutzler, B. Wappenschmidt, E. Hahnen, 2021, Cancers.

Comprehensive Allelotype and Genetic Analysis of 466 Human Nervous System Tumors

A. Poustka, R. Fimmers, D. Louis, 2000, Journal of neuropathology and experimental neurology.

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

A. Meindl, R. Schmutzler, M. Kiechle, 2018, BMC Cancer.

Germline loss-of-function variants in the BARD1 gene are associated with familial breast cancer

E. Hahnen, C. Kubisch, P. Kozłowski, 2018, Senologie - Zeitschrift für Mammadiagnostik und -therapie.

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

A. Meindl, R. Schmutzler, M. Kiechle, 2018, BMC Cancer.

Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.

P. Devilee, C. V. van Asperen, B. Wappenschmidt, 2023, Breast.

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer

R. Schmutzler, C. Engel, U. Göhring, 2023, Cancer medicine.

Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GD-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center.

B. Wappenschmidt, J. Hauke, A. Tüchler, 2024, Journal of genetic counseling.