The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Åke Borg

Åke Borg

Principal investigator

Åke Borg

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients


  • Camilla Wendt
  • Taru A Muranen
  • Lotta Mielikäinen
  • Jessada Thutkawkorapin
  • Carl Blomqvist
  • Xiang Jiao
  • Hans Ehrencrona
  • Emma Tham
  • Brita Arver
  • Beatrice Melin
  • Ekaterina Kuchinskaya
  • Marie Stenmark Askmalm
  • Ylva Paulsson-Karlsson
  • Zakaria Einbeigi
  • Anna von Wachenfeldt Väppling
  • Eija Kalso
  • Tiina Tasmuth
  • Anne Kallioniemi
  • Kristiina Aittomäki
  • Heli Nevanlinna
  • Åke Borg
  • Annika Lindblom

Summary, in English

The risk of breast cancer associated with CHEK2:c.1100delC is 2-threefold but higher in carriers with a family history of breast cancer than without, suggesting that other genetic loci in combination with CHEK2:c.1100delC confer an increased risk in a polygenic model. Part of the excess familial risk has been associated with common low-penetrance variants. This study aimed to identify genetic loci that modify CHEK2:c.1100delC-associated breast cancer risk by searching for candidate risk alleles that are overrepresented in CHEK2:c.1100delC carriers with breast cancer compared with controls. We performed whole-exome sequencing in 28 breast cancer cases with germline CHEK2:c.1100delC, 28 familial breast cancer cases and 70 controls. Candidate alleles were selected for validation in larger cohorts. One recessive synonymous variant, rs16897117, was suggested, but no overrepresentation of homozygous CHEK2:c.1100delC carriers was found in the following validation. Furthermore, 11 non-synonymous candidate alleles were suggested for further testing, but no significant difference in allele frequency could be detected in the validation in CHEK2:c.1100delC cases compared with familial breast cancer, sporadic breast cancer and controls. With this method, we found no support for a CHEK2:c.1100delC-specific genetic modifier. Further studies of CHEK2:c.1100delC genetic modifiers are warranted to improve risk assessment in clinical practice.


  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer

Publishing year







Scientific Reports



Document type

Journal article


Nature Publishing Group


  • Cancer and Oncology


  • Breast Neoplasms/genetics
  • Case-Control Studies
  • Checkpoint Kinase 2/genetics
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Multifactorial Inheritance
  • Sequence Deletion
  • Exome Sequencing/methods



Research group

  • Familial Breast Cancer


  • ISSN: 2045-2322