Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants-Reference-Cited by-同舟云学术

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Published:2020-12-25 Issue:3 Volume:42 Page:223-236
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fortuno Cristina¹,Lee Kristy²,Olivier Magali³,Pesaran Tina⁴,Mai Phuong L.⁵,Andrade Kelvin C.⁶^ORCID,Attardi Laura D.⁷,Crowley Stephanie²,Evans D. Gareth⁸,Feng Bing‐Jian⁹,Foreman Ann K. M.²,Frone Megan N.⁶,Huether Robert¹⁰,James Paul A.¹¹^ORCID,McGoldrick Kelly⁴,Mester Jessica¹²^ORCID,Seifert Bryce A.²^ORCID,Slavin Thomas P.¹³,Witkowski Leora¹⁴,Zhang Liying¹⁵^ORCID,Plon Sharon E.¹⁶,Spurdle Amanda B.¹^ORCID,Savage Sharon A.⁶^ORCID,

Affiliation:

1. QIMR Berghofer Medical Research Institute Brisbane Queensland Australia

2. Department of Genetics University of North Carolina at Chapel Hill Chapel Hill North Carolina USA

3. International Agency for Research on Cancer Lyon France

4. Ambry Genetics Aliso Viejo California USA

5. Magee‐Womens Hospital University of Pittsburgh Medical Center Pittsburgh Pennsylvania USA

6. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda Maryland USA

7. Departments of Radiation‐Oncology and Genetics Stanford University Stanford California USA

8. University of Manchester Manchester UK

9. University of Utah Salt Lake City Utah USA

10. Tempus Chicago Illinois USA

11. Sir Peter MacCallum Department of Oncology University of Melbourne Melbourne Australia

12. GeneDx Gaithersburg Maryland USA

13. City of Hope Duarte California USA

14. Laboratory for Molecular Medicine Partners Healthcare Personalized Medicine Cambridge Maryland USA

15. Memorial Sloan Kettering Cancer Center New York New York USA

16. Department of Pediatrics/Hematology‐Oncology Baylor College of Medicine Houston Texas USA

Funder

Manchester Biomedical Research Centre

National Cancer Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24152

Reference60 articles.

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

2. The Inherited p53 Mutation in the Brazilian Population

3. Actionable exomic incidental findings in 6503 participants: challenges of variant classification

4. Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

5. Higher-than-expected population prevalence of potentially pathogenic germlineTP53variants in individuals unselected for cancer history

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