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Objective  The link between  BRCA1  and homologous recombination deficiency (HRD) in cancer has gained importance with the emergence of new targeted cancer treatments, while the available data on the role of the gene in colorectal cancer (CRC) remain contradictory. The aim of this case series was to elucidate the role of known pathogenic  BRCA1  variants in the development of early-onset CRC.    Design  Patients were evaluated using targeted next generation sequencing, exome sequencing and chromosomal microarray analysis of the paired germline and tumor samples. These results were used to calculate the HRD score and the frequency of mutational signatures in the tumors.    Results  Three patients with metastatic CRC were heterozygous for a previously known  BRCA1  nonsense variant. All tumors showed remarkably high HRD scores, and the HRD-related signature 3 had the second highest contribution to the somatic pattern of variant accumulation in the samples (23% in 1 and 2, and 13% in sample 3).    Conclusions  A  BRCA1  germline pathogenic variant can be involved in CRC development through HRD. Thus,  BRCA1  testing should be considered in young patients with a personal history of microsatellite stable CRC as this could further allow a personalized treatment approach.

Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants