Barbara Wappenschmidt
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Explore the profile of Barbara Wappenschmidt including associated specialties, affiliations and a list of published articles.
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152
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5999
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Recent Articles
11.
Herold N, Hellmich M, Lichtenheldt F, Ataseven B, Hillebrand V, Wappenschmidt B, et al.
Genes (Basel)
. 2022 Aug;
13(8).
PMID: 36011268
Risk-reducing mastectomy (RRM) is the most efficient form of breast cancer (BC) risk reduction in pathogenic variant (pV) carriers. However, this intervention in physical integrity is associated with significant morbidity....
12.
Thomassen M, Mesman R, Hansen T, Menendez M, Rossing M, Esteban-Sanchez A, et al.
Hum Mutat
. 2022 Aug;
43(12):1921-1944.
PMID: 35979650
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess...
13.
Rolfes M, Borde J, Mollenhoff K, Kayali M, Ernst C, Gehrig A, et al.
Cancers (Basel)
. 2022 Jul;
14(13).
PMID: 35805063
Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective...
14.
Borde J, Laitman Y, Blumcke B, Niederacher D, Weber-Lassalle K, Sutter C, et al.
BMC Cancer
. 2022 Jun;
22(1):706.
PMID: 35761208
Background: Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be...
15.
Dareng E, Tyrer J, Barnes D, Jones M, Yang X, Aben K, et al.
Eur J Hum Genet
. 2022 Mar;
30(5):630-631.
PMID: 35314806
No abstract available.
16.
Li S, Silvestri V, Leslie G, Rebbeck T, Neuhausen S, Hopper J, et al.
J Clin Oncol
. 2022 Jan;
40(14):1529-1541.
PMID: 35077220
Purpose: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in and for effective cancer risk management. Methods: We...
17.
Dareng E, Tyrer J, Barnes D, Jones M, Yang X, Aben K, et al.
Eur J Hum Genet
. 2022 Jan;
30(3):349-362.
PMID: 35027648
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance...
18.
Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, et al.
Genet Med
. 2021 Dec;
24(1):119-129.
PMID: 34906479
Purpose: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense...
19.
Barnes D, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, et al.
J Natl Cancer Inst
. 2021 Jul;
114(1):109-122.
PMID: 34320204
Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for...
20.
Lakeman I, van den Broek A, Vos J, Barnes D, Adlard J, Andrulis I, et al.
Genet Med
. 2021 Jun;
23(9):1726-1737.
PMID: 34113011
Purpose: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant...