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Related Experiment Video

Updated: May 23, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

Germline BRCA1 mutations increase prostate cancer risk.

D Leongamornlert¹, N Mahmud, M Tymrakiewicz

¹Oncogenetics Team, The Institute of Cancer Research, Sutton SM2 5NG, UK.

British Journal of Cancer

|April 21, 2012

Summary

Germline BRCA1 mutations increase prostate cancer risk in men, conferring a 3.75-fold relative risk. This finding may influence prostate cancer screening strategies and targeted treatments for male mutation carriers.

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Area of Science:

Genetics
Oncology
Mens Health

Background:

Prostate cancer (PrCa) aetiology is poorly understood, with family history being a significant risk factor.
Previous studies suggested an increased PrCa risk in male BRCA1 mutation carriers, but this remained controversial.
This study aimed to clarify the role of germline BRCA1 mutations in PrCa predisposition.

Purpose of the Study:

To evaluate the association between germline BRCA1 mutations and prostate cancer risk in a large UK population.
To investigate the potential impact of BRCA1 mutations on PrCa predisposition.

Main Methods:

Screened 913 male PrCa cases (aged 36–86) for germline BRCA1 mutations using Sanger sequencing.
Analyzed the entire coding region of the BRCA1 gene.
Utilized multiplex ligation-dependent probe amplification to detect large rearrangements in 460 cases.

Main Results:

Identified 4 deleterious BRCA1 mutations and 45 unclassified variants.
Deleterious BRCA1 mutations were found in 0.45% of cases, with carriers diagnosed at ages 65 and 69.
These mutations confer an estimated 3.75-fold relative risk of PrCa, with an 8.6% cumulative risk by age 65.

Conclusions:

Evidence suggests an increased risk of prostate cancer in men with germline BRCA1 mutations.
These findings have potential implications for PrCa screening strategies and targeted therapies.