The highest frequency of c.3700_3704del detected among Albanians from Kosovo.

Kostovska, Ivana Maleva and Jakovchevska, Simona and Ozdemir, Milena Jakimovska and Kiprijanovska, Sanja and Kubelka-Sabit, Katerina and Jasar, Dzengis and Iljovska, Marina and Lazareva, Emilija and Smichkoska, Snezhana and Plaseska-Karanfilska, Dijana (2022) The highest frequency of c.3700_3704del detected among Albanians from Kosovo. Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 27 (2). pp. 303-309. ISSN 1507-1367

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Abstract

BACKGROUND

The spectrum of and mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the "founder" effect. The c.3700_3704del mutation was previously described as a recurrent variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo.

MATERIALS AND METHODS

A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent mutations. Targeted NGS with a panel of 94 cancer-associated genes including and was performed in a selected group of 118 patients.

RESULTS

We have identified 21 /2 pathogenic variants, 17 (14 and 3 ) in patients from Kosovo (7.9%) and 4 (1 and 3 ) in patients from North Macedonia (3.6%). All mutations were found in one patient each, except for c.3700_3704del mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo.

CONCLUSIONS

This is the first report of mutations among breast and ovarian cancer patients from Kosovo. The finding that c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population.

Item Type:	Article
Impact Factor Value:	1.315
Subjects:	Medical and Health Sciences > Basic medicine Medical and Health Sciences > Clinical medicine Medical and Health Sciences > Health biotechnology Medical and Health Sciences > Health sciences
Divisions:	Faculty of Medical Science
Depositing User:	Katerina Kubelka-Sabit
Date Deposited:	13 Jan 2023 10:53
Last Modified:	18 Oct 2023 10:56
URI:	https://eprints.ugd.edu.mk/id/eprint/30756

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