Clinical, splicing, and functional analysis to classify <i>BRCA2</i> exon 3 variants: Application of a points‐based ACMG/AMP approach-Reference-Cited by-同舟云学术

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

Published:2022-10-23 Issue:12 Volume:43 Page:1921-1944
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Thomassen Mads¹^ORCID,Mesman Romy L. S.²^ORCID,Hansen Thomas V. O.³,Menendez Mireia⁴,Rossing Maria⁵,Esteban‐Sánchez Ada⁶,Tudini Emma⁷^ORCID,Törngren Therese⁸,Parsons Michael T.⁷^ORCID,Pedersen Inge S.⁹¹⁰¹¹,Teo Soo H.¹²¹³,Kruse Torben A.¹,Møller Pål¹⁴,Borg Åke⁸,Jensen Uffe B.¹⁵,Christensen Lise L.¹⁶,Singer Christian F.¹⁷,Muhr Daniela¹⁷,Santamarina Marta¹⁸¹⁹²⁰,Brandao Rita²¹,Andresen Brage S.²²^ORCID,Feng Bing‐Jian²³,Canson Daffodil⁷,Richardson Marcy E.²⁴,Karam Rachid²⁴^ORCID,Pesaran Tina²⁴,LaDuca Holly²⁴,Conner Blair R.²⁴,Abualkheir Nelly²⁴,Hoang Lily²⁴,Calléja Fabienne M. G. R.²,Andrews Lesley²⁵,James Paul A.²⁶²⁷^ORCID,Bunyan Dave²⁸,Hamblett Amanda²⁹,Radice Paolo³⁰,Goldgar David E.²³^ORCID,Walker Logan C.³¹^ORCID,Engel Christoph³²,Claes Kathleen B. M.³³^ORCID,Macháčková Eva³⁴,Baralle Diana²⁸^ORCID,Viel Alessandra³⁵,Wappenschmidt Barbara³⁶³⁷,Lazaro Conxi⁴,Vega Ana¹⁸¹⁹²⁰^ORCID,Vreeswijk Maaike P. G.²^ORCID,de la Hoya Miguel⁶^ORCID,Spurdle Amanda B.⁷^ORCID,

Affiliation:

1. Department of Clinical Genetics Odense University Hospital Odence C Denmark

2. Department of Human Genetics Leiden University Medical Center Leiden the Netherlands

3. Department of Clinical Genetics, Rigshospitalet Copenhagen University Hospital Copenhagen Denmark

4. Hereditary Cancer Program Catalan Institute of Oncology, ONCOBELL‐IDIBELL‐IDTP, CIBERONC Hospitalet de Llobregat Spain

5. Center for Genomic Medicine, Rigshospitalet Copenhagen University Hospital Copenhagen Denmark

6. Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) Madrid Spain

7. Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute Brisbane Queensland Australia

8. Division of Oncology, Department of Clinical Sciences Lund Lund University Lund Sweden

9. Molecular Diagnostics, Aalborg University Hospital Aalborg Denmark

10. Clinical Cancer Research Center Aalborg University Hospital Aalborg Denmark

11. Department of Clinical Medicine Aalborg University Aalborg Denmark

12. Breast Cancer Research Programme Cancer Research Malaysia Subang Jaya Selangor Malaysia

13. Department of Surgery, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia

14. Department of Tumour Biology The Norwegian Radium Hospital, Oslo University Hospital Oslo Norway

15. Department of Clinical Genetics Aarhus University Hospital Aarhus N Denmark

16. Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark

17. Department of OB/GYN and Comprehensive Cancer Center Medical University of Vienna Vienna Austria

18. Fundación Pública Galega de Medicina Xenómica Santiago de Compostela Spain

19. Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS Santiago de Compostela Spain

20. Centro de Investigación en Red de Enfermedades Raras (CIBERER) Madrid Spain

21. Department of Clinical Genetics Maastricht University Medical Center Maastricht the Netherlands

22. Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences University of Southern Denmark Odense Denmark

23. Department of Dermatology Huntsman Cancer Institute, University of Utah School of Medicine Salt Lake City Utah USA

24. Ambry Genetics Aliso Viejo California USA

25. Hereditary Cancer Clinic, Nelune Comprehensive Cancer Care Centre Sydney New South Wales Australia

26. Parkville Familial Cancer Centre, Peter MacCallum Cancer Center Melbourne Victoria Australia

27. Sir Peter MacCallum Department of Oncology The University of Melbourne Melbourne Victoria Australia

28. Human Development and Health, Faculty of Medicine University of Southampton Southampton UK

29. Middlesex Health Shoreline Cancer Center Westbrook Connecticut USA

30. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research Fondazione IRCCS Istituto Nazionale dei Tumori (INT) Milan Italy

31. Department of Pathology and Biomedical Science University of Otago Christchurch New Zealand

32. Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig Leipzig Germany

33. Centre for Medical Genetics Ghent University Gent Belgium

34. Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic

35. Division of Functional Onco‐genomics and Genetics Centro di Riferimento Oncologico di Aviano (CRO), IRCCS Aviano Italy

36. Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany

37. Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany

Funder

Fundación Mutua Madrileña

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24449

Reference55 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

3. Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

4. 5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

5. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines;Human Molecular Genetics;2024-01-25

2. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel;2024-01-23

3. Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified forBRCA1/2;Journal of Medical Genetics;2023-12-30

4. Interpretation of Variants in Clinical Genomics;Encyclopedia of Life Sciences;2023-07-11

5. Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer;Experimental and Molecular Pathology;2023-04