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

作者：Klonowska Katarzyna; Ratajska Magdalena; Czubak Karol; Kuzniacka Alina; Brozek Izabela; Koczkowska Magdalena; Sniadecki Marcin; Debniak Jaroslaw; Wydra Dariusz; Balut Magdalena; Stukan Maciej; Zmienko Agnieszka; Nowakowska Beata; Irminger Finger Irmgard; Limon Janusz; Kozlowski Piotr

来源：Scientific Reports, 2015, 5(1): UNSP 10424.

DOI：10.1038/srep10424

<jats:title>Abstract</jats:title><jats:p>Only approximately 50% of all familial breast cancers can be explained by known genetic factors, including mutations in <jats:italic>BRCA1</jats:italic> and <jats:italic>BRCA2</jats:italic>. One of the most extensively studied candidates for breast and/or ovarian cancer susceptibility is <jats:italic>BARD1</jats:italic>. Although it was suggested that large mutations may contribute substantially to the deleterious variants of <jats:italic>BARD1</jats:italic>, no systematic study of the large mutations in <jats:italic>BARD1</jats:italic> has been performed. To further elucidate the role of large mutations in <jats:italic>BARD1</jats:italic>, 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 <jats:italic>BARD1</jats:italic> 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 <jats:italic>BARD1</jats:italic> mutations detected so far. In conclusion, although we cannot exclude the presence of large mutations in <jats:italic>BARD1</jats:italic>, 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.</jats:p>

• 出版日期2015-5-21