BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature | BMC Medical Genetics | Full Text

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature | BMC Medical Genetics | Full Text

BMC Medical Genetics

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

• Mir AliEmail authorView ORCID ID profile,
• Celia Dawn Delozier and
• Uzair Chaudhary

BMC Medical Genetics201920:75

https://doi.org/10.1186/s12881-019-0812-0

©  The Author(s). 2019

• Received: 29 November 2018
• Accepted: 23 April 2019
• Published: 7 May 2019

Open Peer Review reports

Abstract

Background

Hereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in “novel” genes as conferring an increased risk of colorectal cancer. Mutations in the BRIP1 gene (BRCA1Interacting Protein C- terminal helicase 1) are known to increase the risk of ovarian and breast cancers, but this genes association with colon cancer has not been previously reported.

Case presentation

We describe two patients with colon cancer whose tumor tissue were found to harbor BRIP1 mutations on analysis by next-generation sequencing. These patients were confirmed by analysis of lymphocytes to carry the mutation in the germline as well.

Conclusions

These case reports highlight a previously unreported association of BRIP1germline mutations with colon cancer predisposition.

Keywords

• Colorectal Cancer
• Germline mutation
• BRIP1 gene
• Case report