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Review
. 2019 May 7;20(1):75.
doi: 10.1186/s12881-019-0812-0.

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

Mir Ali  1 , Celia Dawn Delozier  2 , Uzair Chaudhary  2
Affiliations
Review

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

Mir Ali et al. BMC Med Genet. .

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 (BRCA1 Interacting 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 BRIP1 germline mutations with colon cancer predisposition.

Keywords: BRIP1 gene; Case report; Colorectal Cancer; Germline mutation.

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Conflict of interest statement

Ethics approval and consent to participate

Ethics committee at University of California San Francisco Fresno (UCSF Fresno) rules that no formal ethics approval was required for publication of this case report. Written consent was taken from study participants.

Consent for publication

Written consent to publish this information was obtained from study participants.

Competing interests

The authors declare that they have no competing interests.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Family pedigree chart for case report 1
Fig. 2
Fig. 2
Pedigree legend for Figs. 1 and 3
Fig. 3
Fig. 3
Family pedigree chart for case report 2 (see Fig. 2 for legend)
See this image and copyright information in PMC

References

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