A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations

A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations

Abstract Background Genetic predisposition is one of the risk factors for the development of multiple primary cancers (MPCs), the frequency of which increases and ranges from 2 to 17%. This study describes a combination of rare mutations, rs746551843 in the NOTCH2 gene and rs144933006 in the SDK2 ge...

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Bibliographic Details
Main Authors: Nataliya N. Timoshkina, Dmitry Y. Gvaldin, Ekaterina P. Omelchuk, Larisa N. Vashhenko, Tatjana V. Ausheva, Emma E. Kechedzhieva, Oleg I. Kit
Format: Article
Language:English
Published: SpringerOpen 2021-06-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Breast cancer
Leiomyosarcoma
Multiple primary cancers
SDK2
NOTCH2
Online Access:https://doi.org/10.1186/s43042-021-00176-7

Internet

https://doi.org/10.1186/s43042-021-00176-7

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