Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.
Ekatherina Sh KuliginaAnna P SokolenkoIlya V BizinAlexandr A RomankoKirill A ZagorodnevMaria O AnisimovaDaria D KrylovaElena I AnisimovaMaria A MantsevaAshok K VarmaSyed K HasanValeria I NiAndrey V KoloskovEvgeny N SuspitsinAigul R VeninaSvetlana N AleksakhinaTatiana N SokolovaAna Marija MilanovićPeter SchürmannDarya S ProkofyevaMarina A BermishevaElza K KhusnutdinovaNatalia BogdanovaThilo DörkEvgeny N ImyanitovPublished in: Breast cancer research and treatment (2019)
This study suggests the role of a rare splicing variant in BC susceptibility. USP39 encodes an ubiquitin-specific peptidase that regulates cancer-relevant tumor suppressors including CHEK2. Further epidemiological and functional studies involving these gene variants are warranted.