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Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian Cancer

18 Years
80 Years
Open (Enrolling)
Breast Cancer, Ovarian Cancer

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Trial Information

Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian Cancer

Hereditary breast/ovarian cancer syndrome is associated with mutations in tumor suppressor
BRCA1 and BRCA2 genes. Products of these genes play an important role in the repair of DNA
double-strand breaks. Mutations in BRCA1 and BRCA2 genes could impair DNA repair. In resting
or G1 cells, where the de novo synthesis of DNA precursors is absent, the salvage pathway is
the sole provider of deoxyribonucleotides to be used in DNA repair. For this process a
sufficient supply of deoxynucleotides and activity of Thymidine Kinase 1 are essential. TK1
is an important component of adaptive response of cells to DNA damage. Mutations in genes
directly engaged in the DNA repair process could lead to the accumulation of DNA damage and
in turn cause an adaptive cell reaction manifesting as permanently increased Thymidine
Kinase 1 activity.

A recently developed new high-sensitive assay DiviTum® allows to investigate the
contribution of this enzyme to DNA repair processes and to make a comparison of Thymidine
kinase 1 activity in women with normal and impared DNA repair system.

Inclusion Criteria:

- women from family with more than two breast cancer cases and one or more cases of
ovarian cancer diagnosed at any age;

- women from family with more than three breast cancer cases diagnosed before the age

- women from family withsister pair in which one of the following combinations was
diagnosed before the age of 50: two breast cancers, two ovarian cancers, or a breast
and ovarian cancer.

Exclusion Criteria:•

- pregnant women;

- women with generalized CMV and HZV infections;

- women with severe B12 deficiency and megaloblastic anaemia;

- women with severe rheumatoid arthritis.

Type of Study:


Study Design:

Observational Model: Family-Based, Time Perspective: Prospective


Israel: Ministry of Health

Study ID:




Start Date:

March 2009

Completion Date:

March 2011

Related Keywords:

  • Breast Cancer
  • Ovarian Cancer
  • Thymidine Kinase 1
  • BRCA1 and BRCA2 mutations
  • hereditary breast/ovarian cancer
  • Breast Neoplasms
  • Ovarian Neoplasms