Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants-Reference-Cited by-同舟云学术

Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants

Published:2019-03-28 Issue:6 Volume:40 Page:661-674
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Romanet Pauline¹^ORCID,Odou Marie‐Françoise²,North Marie‐Odile³,Saveanu Alexandru¹,Coppin Lucie⁴,Pasmant Eric³,Mohamed Amira⁵,Goudet Pierre⁶,Borson‐Chazot Françoise⁷,Calender Alain⁸,Béroud Christophe⁹,Lévy Nicolas⁹,Giraud Sophie⁸,Barlier Anne¹

Affiliation:

1. Aix Marseille UnivAPHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La ConceptionMarseille France

2. CHU Lille, Service de Biochimie et Biologie moléculaire "Hormonologie, Métabolisme‐Nutrition, Oncologie"F‐59037 Lille France

3. Service de Génétique et Biologie MoléculairesHôpital Cochin, Assistance Publique ‐ Hôpitaux de Paris, 27 Rue du Faubourg Saint JacquesParis France

4. Univ. Lille, Inserm, CHU LilleUMR‐S 1172 — JPARC — Jean‐Pierre Aubert Research CenterF‐59000 Lille France

5. Laboratory of Molecular BiologyHospital La ConceptionMarseille France

6. Department of Endocrine SurgeryUniversity Hospital of Dijon, and INSERM, U866, Epidemiology and Clinical Research in Digestive Oncology Team, and INSERM, CIC1432, Clinical Epidemiology Unit, University Hospital of Dijon, Clinical Investigation Center, Clinical Epidemiology/Clinical Trials UnitDijon France

7. Hospices Civils de LyonFédération d'Endocrinologie, Université Claude Bernard Lyon 1, HESPER EA 7425, F‐69008Lyon France

8. Genetics DepartmentHospices Civils de LYON (HCL), University Hospital, East Pathology Center, B‐A3, 59 Bld Pinel, 69677Bron Cedex France

9. Aix Marseille UnivAPHM, INSERM, MMG, Département de Génétique CHU La Timone EnfantsMarseille France

Funder

Institut National Du Cancer

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23746

Reference48 articles.

1. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2. Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1

3. Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model

4. Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia Type I

5. CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2

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