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Background The data on prevalence and clinical relevance of  TP53  germline mutations in early onset Middle-Eastern breast cancer (BC) is limited. Methods We determined  TP53  germline mutations in a cohort of 464 early onset BC patients from Saudi Arabia using capture sequencing based next generation sequencing. Results Germline  TP53  pathogenic mutations were found in 1.5% (7/464) of early onset Saudi BC patients. A total of six pathogenic missense mutations, one stop gain mutation and two variants of uncertain significance (VUS) were detected in our cohort. No  TP53  pathogenic mutations were detected among 463 healthy controls.  TP53  mutations carriers were significantly more likely to have bilateral breast cancer ( p  = 0.0008). At median follow-up of 41 months,  TP53  mutations were an unfavorable factor for overall survival in univariate analysis. All the patients carrying  TP53  mutations were negative for  BRCA1  and  BRCA2  mutations. Majority of patients (85.7%; 6/7) carrying  TP53  mutation had no family history suggestive of Li-Fraumeni Syndrome (LFS) or personal history of multiple LFS related tumors. Only one patient had a positive family history suggestive of LFS. Conclusions TP53  germline mutation screening detects a clinically meaningful risk of early onset BC from this ethnicity and should be considered in all early onset BC regardless of the family history of cancer, especially in young patients that are negative for  BRCA  mutations.

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients