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

Author:

de Andrade Kelvin César12ORCID,Mirabello Lisa1,Stewart Douglas R.1,Karlins Eric3,Koster Roelof4,Wang Mingyi3,Gapstur Susan M.5,Gaudet Mia M.5,Freedman Neal D.6,Landi Maria Teresa7,Lemonnier Nathanaël8,Hainaut Pierre8,Savage Sharon A.1,Achatz Maria Isabel1

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 USA

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

3. Cancer Genomics Research Laboratory; Division of Cancer Epidemiology and Genetics; National Cancer Institute; Leidos Biomedical Research Inc.; Department of Health and Human Services; Bethesda Maryland USA

4. Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics; National Cancer Institute; National Institutes of Health; Department of Health and Human Services; Bethesda Maryland USA

5. Epidemiology Research Program; American Cancer Society; Atlanta Georgia USA

6. Metabolic Epidemiology Branch, Division of Cancer Epidemiology and Genetics; National Cancer Institute, National Institutes of Health; Department of Health and Human Services; Bethesda Maryland USA

7. Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics; National Cancer Institute, National Institutes of Health; Department of Health and Human Services; Bethesda Maryland USA

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

Funder

Division of Cancer Epidemiology and Genetics

National Cancer Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference39 articles.

1. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families;Achatz;Cancer Letters,2007

2. The inherited p53 mutation in the Brazilian population;Achatz;Cold Spring Harbor Perspectives in Medicine,2016

3. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families;Birch;Cancer Research,1994

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

5. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome;Bougeard;Journal of Medical Genetics,2006

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