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Background  Variant  ATM  heterozygotes have an increased risk of developing cancer, cardiovascular diseases, and diabetes. Costs and time of sequencing and  ATM  variant complexity make large-scale, general population screenings not cost-effective yet. Recently, we developed a straightforward, rapid, and inexpensive test based on p53 mitotic centrosomal localization (p53-MCL) in peripheral blood mononuclear cells (PBMCs) that diagnoses mutant  ATM  zygosity and recognizes tumor-associated  ATM  polymorphisms.    Methods  Fresh PBMCs from 496 cancer patients were analyzed by p53-MCL: 90 cases with familial  BRCA1/2- positive and -negative breast and/or ovarian cancer, 337 with sporadic cancers (ovarian, lung, colon, and post-menopausal breast cancers), and 69 with breast/thyroid cancer. Variants were confirmed by  ATM  sequencing.    Results  A total of seven individuals with ATM variants were identified, 5/65 (7.7 %) in breast cancer cases of familial breast and/or ovarian cancer and 2/69 (2.9 %) in breast/thyroid cancer. No variant  ATM  carriers were found among the other cancer cases. Excluding a single case in which both  BRCA1  and  ATM  were mutated, no p53-MCL alterations were observed in  BRCA1/2 -positive cases.    Conclusions  These data validate p53-MCL as reliable and specific test for germline  ATM  variants, confirm  ATM  as breast cancer susceptibility gene, and highlight a possible association with breast/thyroid cancers.    Electronic supplementary material  The online version of this article (doi:10.1186/s13046-016-0410-3) contains supplementary material, which is available to authorized users.

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer