Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

Poster display session

3645 - Breast cancer predisposing germline mutations identified by exome sequencing


11 Sep 2017


Poster display session


Cancer Prevention;  Targeted Therapy;  Breast Cancer


Ekaterina Kuligina


Annals of Oncology (2017) 28 (suppl_5): v1-v21. 10.1093/annonc/mdx361


E.S. Kuligina1, A.P. Sokolenko1, I.V. Bizin2, M.O. Anisimova1, A.A. Romanko1, E. Imyanitov1

Author affiliations

  • 1 Department Of Tumor Biology, NN Petrov Research Institute of Oncology, 197758 - Saint Petersburg/RU
  • 2 Bioinformatics, St. Petersburg State Polytechnical University, Saint Petersburg/RU


Abstract 3645


A significant portion of hereditary predisposition to breast cancer (BC) is attributed to yet unknown factors. Russian population is characterized by surprisingly strong founder effect, therefore whole exome sequencing (WES) for a limited number of these genetically homogenous patients has a potential to identify novel BC-predisposing genes.


WES was performed for 32 Russian BC cases, which demonstrated strong clinical signs of the hereditary disease (family history, BC bilaterality, young onset) and lacked germline mutations in “canonical” BC genes (BRCA1, BRCA2, CHEK2, PALB2, and NBS1/NBN).


Eight patients carried potentially pathogenic mutations in BRCA1 network genes (3 truncations (BLM p.Q548*, RAD51C c.904 + 1G>A, FANCM p.S497fs) and 5 missense mutations (FANCM (p.R100W, p.Q891P), ERCC4 p.R799W, RAD54L p.R394W, RAD50 p.D515G)). The remaining 24 patients were analyzed for the presence of rare non-silent genetic variants; in total, 15437 alleles had ExAC frequency


This study revealed several alleles, which may be associated with increased BC predisposition. However, in contrast to well-known Slavic BRCA founder mutations, newly identified candidates are exceptionally rare and therefore are unlikely to be responsible for a significant share of BC morbidity. Supported by the RSF grant No 16-45-02011

Clinical trial identification

Legal entity responsible for the study

Evgeny N. Imyanitov, Head of the Department of Tumor Biology in the N.N. Petrov Institute of Oncology


Russian Scientific Fund (grant No 16-45-02011).


All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings
  • Necessary cookies enable core functionality. The website cannot function properly without these cookies, and you can only disable them by changing your browser preferences.