Exploring the hereditary background of renal cancer in Denmark.
Maria Bejerholm ChristensenKarin WadtUffe Birk JensenCharlotte Kvist LautrupAnders BojesenLotte Nylandsted KroghThomas van Overeem HansenAnne-Marie GerdesPublished in: PloS one (2019)
Although we did find three VUS's in BAP1 in three families and a pathogenic variant in MITF in one family, pathogenic germline variants in BAP1, MITF or CDKN2B are not frequent causes of hereditary renal cancer in Denmark. It is possible that the high prevalence of risk factors such as male gender, smoking and obesity has influenced the development of cancer in the patients of the current study. Further investigations into putative predisposing genes and risk factors of RCC are necessary to enable better prediction of renal cancer risk or presymptomatic testing of relatives in hereditary renal cancer families.