% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Zheng:163838,
      author       = {G. Zheng$^*$ and C. Catalano$^*$ and O. R. Bandapalli$^*$
                      and N. Paramasivam and S. Chattopadhyay$^*$ and M.
                      Schlesner$^*$ and R. Sijmons and A. Hemminki and D. Dymerska
                      and J. Lubinski and K. Hemminki$^*$ and A. Försti$^*$},
      title        = {{C}ancer {P}redisposition {G}enes in {C}ancer-{F}ree
                      {F}amilies.},
      journal      = {Cancers},
      volume       = {12},
      number       = {10},
      issn         = {2072-6694},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2020-02078},
      pages        = {2770},
      year         = {2020},
      note         = {#EA:C050#LA:B062#LA:C050#LA:C020#},
      abstract     = {Familial clustering, twin concordance, and identification
                      of high- and low-penetrance cancer predisposition variants
                      support the idea that there are families that are at a high
                      to moderate excess risk of cancer. To what extent there may
                      be families that are protected from cancer is unknown. We
                      wanted to test genetically whether cancer-free families
                      share fewer breast, colorectal, and prostate cancer risk
                      alleles than the population at large. We addressed this
                      question by whole-genome sequencing (WGS) of 51 elderly
                      cancer-free individuals whose numerous (ca. 1000) family
                      members were found to be cancer-free ('cancer-free
                      families', CFFs) based on face-to-face interviews. The
                      average coverage of the 51 samples in the WGS was 42x. We
                      compared cancer risk allele frequencies in cancer-free
                      individuals with those in the general population available
                      in public databases. The CFF members had fewer
                      loss-of-function variants in suggested cancer predisposition
                      genes compared to the ExAC data, and for high-risk cancer
                      predisposition genes, no pathogenic variants were found in
                      CFFs. For common low-penetrance breast, colorectal, and
                      prostate cancer risk alleles, the results were not
                      conclusive. The results suggest that, in line with twin and
                      family studies, random environmental causes are so dominant
                      that a clear demarcation of cancer-free populations using
                      genetic data may not be feasible.},
      cin          = {C050 / B062 / HD01 / B240 / C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)B240-20160331 /
                      I:(DE-He78)C020-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32992489},
      doi          = {10.3390/cancers12102770},
      url          = {https://inrepo02.dkfz.de/record/163838},
}