Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.

ABSTRACT: Strong inherited predisposition to breast cancer is estimated to cause about 5-10% of all breast cancer cases. As the known susceptibility genes, such as BRCA1 and BRCA2, explain only a fraction of this, additional predisposing genes and related biological mechanisms are actively being searched for. We have recently identified a recurrent MCPH1 germline mutation, p.Arg304ValfsTer3, as a breast cancer susceptibility allele. MCPH1 encodes a multifunctional protein involved in maintenance of genomic integrity and it is also somatically altered in various cancer types, including breast cancer. Additionally, biallelic MCPH1 mutations are causative for microcephaly and at cellular level premature chromosome condensation. To study the molecular mechanisms leading to cancer predisposition and mali

SUBMITTER: Tervasmaki A 

PROVIDER: S-EPMC6767439 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature