Pārmantotā endometrija vēža raksturojums Latvijā

Translated title of the contribution: Characterization of Hereditary Endometrial Cancer in Latvia

Liāna Švampāne

Research output: Types of ThesisDoctoral Thesis


Endometrial cancer is one of the most common cancer localizations for women in many countries, mostly being 3rd after breast and skin cancer. In Latvia, endometrial cancer is first diagnosed in 370–390 women every year. 75% of those are women during menopause or postmenopause, whereas 25% are during premenopause. Therefore, early diagnosis is important in which expanded family history on endometrial or colorectal cancer morbity for first and second degree relatives is used by employing certain diagnostic criteria. The goal of this study was to detect possible hereditary endometrial cancer cases after oncological family history in patients with histologically verified endometrial cancer. Determine predisposing mutations in families with endometrial cancer as well as the expressions of the MSH2 and MSH6 genes in the case of hereditary and sporadic cancer. The study includes 704 patients whose age of disease onset, stage, degree of differentiation, survival and cancer activation were registered to compare hereditary endometrial cancer with sporadic cancer. According to the Amsterdam criteria, 19 patients were diagnosed with hereditary endometrial cancer while 685 – with sporadic endometrial cancer. 11/19 (57.9%) patients had predisposing mutations. 8/11 (72.7%) of these patients had overall 2 frameshift mutations (2150TCAG (rs63750159) and 1050delC) in the MSH6 gene, 3 missense mutations in the MLH1 (P640S (rs63749792) and 1219V (rs1799977)) gene and MSH2 (G322D (rs4987188)) gene, 1 splice-site mutation (IV5+A>T) in the MSH2 gene. 2 patients had no clicinally putative significant mutations. The incidence of endometrial cancer in consecutively hospitalized endometrial cancer patients is 2.7% (95% CI: 1.7–4.2%). The results show that detecting hereditary endometrial cancer can aid in early endometrial cancer diagnosis, therapy and prevention.
Translated title of the contributionCharacterization of Hereditary Endometrial Cancer in Latvia
Original languageLatvian
  • Gardovskis, Jānis, First/Primary/Lead supervisor
Place of PublicationRiga
Publication statusPublished - 2015
Externally publishedYes


  • Medicine
  • Subsection – Oncology
  • Doctoral Thesis

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 4. Doctoral Thesis


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