cDNA analysis of patient No.1273 uncovered with an intronic variant c.1026+5_1026+7delGTA causing RAD51C out-of-frame exon 8 skipping.

<p>The electrophoresis (left) of PCR products amplified with primers located in exon 5 and 3’ UTR sequence (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0127711#pone.0127711.s001" target="_blank">S1 Table</a>) shows two products in a patient No.1273 compared to a wild-type control (C) sample. Sequencing chromatogram of the patient’s PCR product shows the presence of aberrantly spliced mRNA with exon 8 skipping.</p

Criteria for the enrollment of high-risk <i>BRCA1</i>- and <i>BRCA2</i>-negative individuals in this study and number of identified mutations in each group.

<p>BC—breast cancer; HBOC—hereditary breast and ovarian cancer; HOC—hereditary ovarian cancer; OC—ovarian cancer; y/o—years old. Number of rare missense variants are in brackets.</p><p>Criteria for the enrollment of high-risk <i>BRCA1</i>- and <i>BRCA2</i>-negative individuals in this study and number of identified mutations in each group.</p