Report of a germline double heterozygote in MSH2 and PALB2-Reference-Cited by-同舟云学术

Report of a germline double heterozygote in MSH2 and PALB2

Published:2020-08-27 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Agiannitopoulos Konstantinos¹^ORCID,Papadopoulou Eirini¹,Tsaousis Georgios N.¹^ORCID,Pepe Georgia¹,Kampouri Stavroula¹,Patsea Eleni²,Lypas George³,Nasioulas George¹

Affiliation:

1. Genekor Medical S.A Athens Greece

2. Department of Pathology IASSO General Hospital Athens Greece

3. Department of Genetic Oncology/Medical Oncology Hygeia Hospital Athens Greece

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1242

Reference23 articles.

1. Breast-Cancer Risk in Families with Mutations in PALB2

2. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking KnownBRCAMutations

3. Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer

4. Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients

5. Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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1. Two recurrent pathogenic/likely pathogenic variants in PALB2 account for almost half of PALB2 positive families in Slovenia;2024-07-08

2. Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients;Cancer Genomics - Proteomics;2021-12-23