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

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

Understanding the Role of the Microbiome in Cancer Diagnostics and Therapeutics by Creating and Utilizing ML Models

Recent studies have highlighted that gut microbiota can alter colorectal cancer susceptibility and progression due to its impact on colorectal carcinogenesis. This work represents a comprehensive technical approach in modeling and interpreting the drug-resistance mechanisms from clinical data for patients diagnosed with colorectal cancer. To accomplish our aim, we developed a methodology based on evaluating high-performance machine learning models where a Python-based random forest classifier provides the best performance metrics, with an overall accuracy of 91.7%. Our approach identified and interpreted the most significant genera in the cases of resistant groups. Thus far, many studies point out the importance of present genera in the microbiome and intend to treat it separately. The symbiotic bacterial analysis generated different sets of joint feature combinations, providing a combined overview of the model’s predictiveness and uncovering additional data correlations where different genera joint impacts support the therapy-resistant effect. This study points out the different perspectives of treatment since our aggregate analysis gives precise results for the genera that are often found together in a resistant group of patients, meaning that resistance is not due to the presence of one pathogenic genus in the patient microbiome, but rather several bacterial genera that live in symbiosis

The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo

Background: The spectrum of BRCA1 and BRCA2 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 BRCA1 variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del BRCA1 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 BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients. Results: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo. Conclusions: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 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. Key words: BRCA1; c.3700_3704del; founder mutation; breast cancer; Kosov