Susanne E Boonen
Overview
Explore the profile of Susanne E Boonen including associated specialties, affiliations and a list of published articles.
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Articles
22
Citations
721
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Recent Articles
1.
Frederiksen J, Birkedal U, Bachmann S, Eliesen E, Rasmussen L, Pedersen K, et al.
Mol Genet Genomic Med
. 2024 Nov;
12(11):e70026.
PMID: 39548353
Background: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the...
2.
Block I, Mateu-Regue A, Do T, Miceikaite I, Sdogati D, Larsen M, et al.
Breast Cancer Res
. 2024 Jan;
26(1):6.
PMID: 38195559
Background: Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods: We identified...
3.
Lildballe D, Frederiksen A, Schonewolf-Greulich B, Brasch-Andersen C, Lautrup C, Karstensen H, et al.
Eur J Med Genet
. 2023 Nov;
66(12):104872.
PMID: 37967791
Genetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow...
4.
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.
5.
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, et al.
Commun Biol
. 2022 Oct;
5(1):1061.
PMID: 36203093
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis...
6.
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...
7.
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...
8.
Fernandez-Guerra P, Gonzalez-Ebsen A, Boonen S, Courraud J, Gregersen N, Mehlsen J, et al.
Biomolecules
. 2021 Jul;
11(7).
PMID: 34209852
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a heterogeneous, debilitating, and complex disease. Along with disabling fatigue, ME/CFS presents an array of other core symptoms, including autonomic nervous system (ANS) dysfunction,...
9.
Barnes D, Rookus M, McGuffog L, Leslie G, Mooij T, Dennis J, et al.
Genet Med
. 2020 Jul;
22(10):1653-1666.
PMID: 32665703
Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods:...
10.
Li A, Geyer F, Blecua P, Lee J, Selenica P, Brown D, et al.
NPJ Breast Cancer
. 2019 Nov;
5:44.
PMID: 31754629
[This corrects the article DOI: 10.1038/s41523-019-0115-9.].