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. 2015 May 6;11(5):e1005228. doi: 10.1371/journal.pgen.1005228

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© 2015 Sun et al

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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Fig 1 — (A) RT-PCR analysis of RNA extracted from the blood sample of the affected index case, using primers located in exon 3 and exon 7. The PCR products showed a reduced normal transcript (ENST00000444129) and an additional aberrant splicing transcript skipping exon 5, as confirmed by Sanger sequencing. (B) The pedigree of the index case who carried the RECQL c.395-2 A>G mutation. Types of cancer and age in years (y) at first diagnosis are given underneath each symbol. Filled circles represent breast cancer (BC) and double breast cancer (DBC); streaked circles represent ovarian cancer (OC); centre circles represent other types of cancer (CerC, cervical cancer; LC, lung cancer; PerC, peritoneal cancer; X, uninformative cancer).