Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

Abstract Background The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes’ homeostasis. Individuals harboring MITF germline pathogenic variants are at increased risk of developing cancer, most notably melanoma an...

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Bibliographic Details
Main Authors: Leandro Jonata Carvalho Oliveira, Aline Bobato Lara Gongora, Fabiola Ambrosio Silveira Lima, Felipe Sales Nogueira Amorim Canedo, Carla Vanessa Quirino, Janina Pontes Pisani, Maria Isabel Achatz, Benedito Mauro Rossi
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
MITF
c.952G > A
p.E318K
Hereditary cancer
Multigene sequencing panel
Breast cancer
Online Access:https://doi.org/10.1186/s13053-021-00189-8

Internet

https://doi.org/10.1186/s13053-021-00189-8

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