A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast...

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Breast cancer (BC) is a leading cancer in women, with inherited forms linked to BRCA1 and BRCA2 gene mutations.
• Accurate diagnosis and understanding genetic predispositions are crucial for effective BC management.

Purpose of the Study:

• To compare genotype and diagnostic features between breast cancer index cases and non-BC individuals.
• To investigate the association between genotype and demographic information in breast cancer patients.

Main Methods:

• Mutational analysis of BRCA1/BRCA2 genes in 2475 individuals (2013-2022) across Turkish collaborative centers.
• Categorization of 1444 individuals as breast cancer index cases.
• Meta-analysis comparing findings with Mediterranean-region populations.

Main Results:

• Overall mutation detection rate was 17% (421/2475); 16.6% in BC index cases (239/1444).
• BRCA1/BRCA2 mutations were found in 17.8% of familial and 12% of sporadic cases.
• BRCA2 mutations (12%) were significantly more prevalent than BRCA1 mutations (4.9%).

Conclusions:

• BRCA2 mutations are more common than BRCA1 mutations in the studied population.
• Findings align with Mediterranean-region data, with lower variant proportions in sporadic BC cases.
• The large sample size provides robust data to aid in the clinical management of familial and non-familial breast cancer.