Barbara Wappenschmidt

Kerpener Str. 34
Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 95 publications

Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer.

Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer.

Journal: European journal of cancer (Oxford, England : 1990)

Published: April 24, 2026

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Journal: Journal of medical genetics

Published: January 13, 2026

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Journal: Journal of the National Cancer Institute

Published: August 05, 2024

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

Journal: Breast (Edinburgh, Scotland)

Published: February 21, 2024

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

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

Journal: Breast (Edinburgh, Scotland)

Published: September 05, 2023

Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.

Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.

Journal: Cancer medicine

Published: May 31, 2023

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.

Journal: Human mutation

Published: January 01, 2023

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.

Journal: NPJ breast cancer

Published: November 13, 2022

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Journal: British journal of cancer

Published: November 07, 2022

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

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

Journal: Journal of genetic counseling

Published: October 08, 2022

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 07, 2022

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Journal: European journal of human genetics : EJHG

Published: July 15, 2022

Showing 1-12 of 95

Last Updated: 09/26/2026