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Only approximately 50% of all familial breast cancers can be explained by known genetic factors, including mutations in  BRCA1  and  BRCA2 . One of the most extensively studied candidates for breast and/or ovarian cancer susceptibility is  BARD1 . Although it was suggested that large mutations may contribute substantially to the deleterious variants of  BARD1 , no systematic study of the large mutations in  BARD1  has been performed. To further elucidate the role of large mutations in  BARD1 , we designed a multiplex ligation-dependent probe amplification (MLPA) assay and performed an analysis of 504 women with a familial breast and/or ovarian cancer and 313 patients with ovarian cancer. The investigation did not reveal any large mutations in the  BARD1  gene. Although the analysis was not focused on identification of small mutations, we detected seven deleterious or potentially deleterious point mutations, which contribute substantially to the total number of  BARD1  mutations detected so far. In conclusion, although we cannot exclude the presence of large mutations in  BARD1 , our study indicates that such mutations do not contribute substantially to the risk of breast and/or ovarian cancer. However, it has to be noted that our results may be specific to the Polish population.

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example