Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis-Reference-Cited by-同舟云学术

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

Published:2018-11-19 Issue:1 Volume:40 Page:97-105
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

de Andrade Kelvin C.¹²^ORCID,Frone Megan N.¹,Wegman-Ostrosky Talia¹³,Khincha Payal P.¹,Kim Jung¹^ORCID,Amadou Amina⁴,Santiago Karina M.²,Fortes Fernanda P.²,Lemonnier Nathanaël⁴,Mirabello Lisa¹,Stewart Douglas R.¹^ORCID,Hainaut Pierre⁴,Kowalski Luiz P.⁵,Savage Sharon A.¹^ORCID,Achatz Maria I.¹⁶

Affiliation:

1. Clinical Genetics Branch; Division of Cancer Epidemiology and Genetics; National Cancer Institute; National Institutes of Health; Department of Health and Human Services; Bethesda Maryland

2. International Research Center; A.C. Camargo Cancer Center; São Paulo Brazil

3. Division of Research; National Cancer Institute; Mexico City Mexico

4. Institute for Advanced Biosciences; Inserm U 1209 CNRS UMR 5309 Université Grenoble Alpes; Site Santé; Allée des Alpes La Tronche France

5. Department of Head and Neck Surgery and Otorhinolaryngology; AC Camargo Cancer Center; São Paulo Brazil

6. Centro de Oncologia; Sírio-Libanês Hospital; São Paulo Brazil

Funder

Division of Cancer Epidemiology and Genetics, National Cancer Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23673/fullpdf

Reference42 articles.

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2. Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: Temporal phases of Li-Fraumeni syndrome;Amadou;Current Opinion in Oncology,2017

3. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium;Amendola;American Journal of Human Genetics,2016

4. Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families;Arcand;Breast Cancer Research and Treatment,2008

5. TP53 variations in human cancers: New lessons from the IARC TP53 database and genomics data;Bouaoun;Human Mutation,2016

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