DAGM: A novel modelling framework to assess the risk of HER2-negative breast cancer based on germline rare coding mutations.

ABSTRACT:

Background

Breast cancers can be divided into HER2-negative and HER2-positive subtypes according to different status of HER2 gene. Despite extensive studies connecting germline mutations with possible risk of HER2-negative breast cancer, the main category of breast cancer, it remains challenging to obtain accurate risk assessment and to understand the potential underlying mechanisms.

Methods

We developed a novel framework named Damage Assessment of Genomic Mutations (DAGM), which projects rare coding mutations and gene expressions into Activity Profiles of Signalling Pathways (APSPs).

Findings

We characterized and validated DAGM framework at multiple levels. Based on an input of germline rare coding mutations, we obtained the corresponding APSP spectrum to calculate t

SUBMITTER: Yang M 

PROVIDER: S-EPMC8220579 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature