Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel-Reference-Cited by-同舟云学术

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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Published:2018-10-11 Issue:11 Volume:39 Page:1581-1592
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mester Jessica L.¹^ORCID,Ghosh Rajarshi²,Pesaran Tina³,Huether Robert⁴,Karam Rachid³^ORCID,Hruska Kathleen S.¹,Costa Helio A.⁵,Lachlan Katherine⁶⁷,Ngeow Joanne⁸^ORCID,Barnholtz‐Sloan Jill⁹¹⁰,Sesock Kaitlin¹¹,Hernandez Felicia³,Zhang Liying¹²,Milko Laura¹³,Plon Sharon E.²,Hegde Madhuri¹⁴¹⁵,Eng Charis⁹¹⁰¹⁶^ORCID

Affiliation:

1. GeneDx, Inc. Gaithersburg Maryland

2. Baylor College of Medicine Houston Texas

3. Ambry Genetics Aliso Viejo California

4. Tempus Labs Chicago Illinois

5. Stanford University School of Medicine Stanford California

6. Wessex Clinical Genetics ServiceUniversity Hospitals Southampton Southampton UK

7. Human Genetics and Genomic MedicineFaculty of MedicineUniversity of Southampton Southampton UK

8. National Cancer Centre Singapore Singapore

9. Case Comprehensive Cancer Center Cleveland Ohio

10. Case Western Reserve University School of Medicine Cleveland Ohio

11. Counsyl, Inc. San Francisco California

12. Memorial Sloan Kettering Cancer Center New York New York

13. University of North Carolina Chapel Hill North Carolina

14. Emory University Atlanta Georgia

15. PerkinElmer Genetics Pittsburgh Pennsylvania

16. Cleveland Clinic Genomic Medicine Institute Cleveland Ohio

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23636

Reference54 articles.

1. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

2. The ACMG/AMP reputable source criteria for the interpretation of sequence variants

3. High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

4. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

5. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

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