Barbara Wappenschmidt
Overview
Explore the profile of Barbara Wappenschmidt including associated specialties, affiliations and a list of published articles.
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Articles
152
Citations
5999
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Recent Articles
1.
Li S, Madanat-Harjuoja L, Leslie G, Barnes D, Bolla M, Dennis J, et al.
J Natl Cancer Inst
. 2024 Nov;
PMID: 39585318
Background: Whether carriers of BRCA1 or BRCA2 (BRCA1/2) pathogenic variants (PVs) have increased risks of childhood, adolescent, and young adult (CAYA) cancers is controversial. We aimed to evaluate this risk...
2.
Zanti M, OMahony D, Parsons M, Li H, Dennis J, Aittomakkiki K, et al.
Hum Mutat
. 2024 May;
2023.
PMID: 38725546
A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and...
3.
Zemankova P, cerna M, Horackova K, Ernst C, Soukupova J, Borecka M, et al.
Breast
. 2024 Mar;
75:103721.
PMID: 38554551
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA...
4.
Herold N, Bredow K, Ernst C, Tuchler A, Blumcke B, Waha A, et al.
J Genet Couns
. 2024 Feb;
33(1):206-215.
PMID: 38351721
The German Cancer Society (Deutsche Krebsgesellschaft DKG) has published a position paper to address the challenges of cancer patient care in the era of genomic medicine. The German Consortium Hereditary...
5.
Tuchler A, de Pauw A, Ernst C, Anota A, Lakeman I, Dick J, et al.
Breast
. 2023 Dec;
73:103615.
PMID: 38061307
Background: Breast cancer (BC) risk prediction models consider cancer family history (FH) and germline pathogenic variants (PVs) in risk genes. It remains elusive to what extent complementation with polygenic risk...
6.
Muranen T, Morra A, Khan S, Barnes D, Bolla M, Dennis J, et al.
NPJ Breast Cancer
. 2023 May;
9(1):37.
PMID: 37173335
We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of...
7.
OMahony D, Ramus S, Southey M, Meagher N, Hadjisavvas A, John E, et al.
Br J Cancer
. 2023 Apr;
128(12):2283-2294.
PMID: 37076566
Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as...
8.
Figlioli G, Billaud A, Ahearn T, Antonenkova N, Becher H, Beckmann M, et al.
Eur J Hum Genet
. 2023 Jan;
31(5):578-587.
PMID: 36707629
Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women...
9.
Dixon-Suen S, Lewis S, Martin R, English D, Boyle T, Giles G, et al.
Br J Sports Med
. 2022 Nov;
56(20):1157-1170.
PMID: 36328784
Objectives: Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial...
10.
Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, et al.
Genet Med
. 2022 Oct;
24(10):2208.
PMID: 36205748
No abstract available.