High frequency of BRCA 1 mutations in the series of 100 patients diagnosed with endometrial cancer before 50 years of age.

Dorota Nowakowska1, Ewa Kwiatkowska1, Aneta Janiec-Jankowska2, Anna Pająk1, Bogusław Lindner1, Piotr Sobiczewski1

1Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland. 2Maria Sklodowska-Curie Memorial Cancer Center and Institute of OncologyMaria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland



Endometrial cancer (EC) belongs to the spectrum of Lynch syndrome (LS) and Cowden syndrome/PTEN-HTS .  According to the guidelines EC < 50 y. should raise the suspicion of the mentioned syndromes. However the risk of EC in the patients with HBOCS is still debatable.

Material and methods:  100 women with EC < 50 y. were referred for counselling.  We performed immunohistochemistry analysis on tumour tissue. If the loss of expression of ≥ 1 DNA MMR proteins was noted, we performed sequencing of the appropriate gene in the blood DNA. The phenotype of the patient had been assessed by an experienced clinical geneticist and also PTEN Cleveland Clinic Score Calculator had been implemented to find those that might have Cowden syndrome / PTEN HTS

In all group of the EC patients the BRCA1 gene was sequenced, but only exons in which the most common in Polish population mutations are found.


In the group of 100 patients with EC < 50 y. we identified 5% BRCA1 mutations carriers.


In women diagnosed with EC < 50 years of age testing for HBOCS seems to be mandatory.

Abstract references


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  4. https://www.lerner.ccf.org/gmi/ccscore/