Spectrum and Prevalence of BRCA1/BRCA2 Variants in Aegean Region Hereditary Breast and Ovarian Cancer Cases

Zehra Manav Yiğit; Gökay Bozkurt

Makale detayları

Spectrum and Prevalence of BRCA1/BRCA2 Variants in Aegean Region Hereditary Breast and Ovarian Cancer Cases

Yazarlar:

Zehra Manav Yiğit | Gökay Bozkurt

Yayıncı:

Mugla Sitki Kocman University

Ana Başlıklar:

Klinik Tıp Bilimleri (Diğer)

Dergi:

Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi Vol.12 Issue 2, pp.120-126

Belge Tipi:

Makale

Yayın Tarihi:

8/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001357186

pISSN:

2148-8118

Anahtar kelimeler:

Özet:

 In Western populations, 510 of breast cancer cases are hereditary, primarily due to pathogenic germline variants in BRCA1 and BRCA2 genes. Women carrying these variants have a lifetime risk of 4057 for BC and 1840 for ovarian cancer. This study aims to investigate the prevalence and distribution of BRCA1 and BRCA2 variants among hereditary breast and ovarian cancer cases in the Aegean region of Turkey. In this retrospective study, the medical records of 157 hereditary breast and ovarian cancer cases who presented to the Medical Genetics Clinic at Aydın Adnan Menderes University between 2013 and 2019 were reviewed. BRCA1 and BRCA2 gene analyses for these cases were performed using Sanger sequencing. The results were analyzed by collecting demographic and clinical data, including tumor characteristics and family history. Pathogenic or likely pathogenic variants were identified in 17 cases 11 for BRCA1 and 6 cases 4 for BRCA2. The most common BRCA1 variants were c.66dupA and c.5266dupC, while BRCA2 variants exhibited greater heterogeneity, with no recurrent variants. Breast cancer 72.6 was the most frequent diagnoses, with invasive ductal carcinoma as the predominant histological subtype. The study underscores the importance of population-specific genetic testing strategies to identify BRCA12 variants. The findings reveal a unique variant spectrum in the Aegean Region population, highlighting the absence of globally common variants and the need for comprehensive genetic counseling to improve risk assessment and management for hereditary breast and ovarian cancer patients.

 In Western populations, 510 of breast cancer cases are hereditary, primarily due to pathogenic germline variants in BRCA1 and BRCA2 genes. Women carrying these variants have a lifetime risk of 4057 for BC and 1840 for ovarian cancer. This study aims to investigate the prevalence and distribution of BRCA1 and BRCA2 variants among hereditary breast and ovarian cancer cases in the Aegean region of Turkey. In this retrospective study, the medical records of 157 hereditary breast and ovarian cancer cases who presented to the Medical Genetics Clinic at Aydın Adnan Menderes University between 2013 and 2019 were reviewed. BRCA1 and BRCA2 gene analyses for these cases were performed using Sanger sequencing. The results were analyzed by collecting demographic and clinical data, including tumor characteristics and family history. Pathogenic or likely pathogenic variants were identified in 17 cases 11 for BRCA1 and 6 cases 4 for BRCA2. The most common BRCA1 variants were c.66dupA and c.5266dupC, while BRCA2 variants exhibited greater heterogeneity, with no recurrent variants. Breast cancer 72.6 was the most frequent diagnoses, with invasive ductal carcinoma as the predominant histological subtype. The study underscores the importance of population-specific genetic testing strategies to identify BRCA12 variants. The findings reveal a unique variant spectrum in the Aegean Region population, highlighting the absence of globally common variants and the need for comprehensive genetic counseling to improve risk assessment and management for hereditary breast and ovarian cancer patients.

 In Western populations, 510 of breast cancer cases are hereditary, primarily due to pathogenic germline variants in BRCA1 and BRCA2 genes. Women carrying these variants have a lifetime risk of 4057 for BC and 1840 for ovarian cancer. This study aims to investigate the prevalence and distribution of BRCA1 and BRCA2 variants among hereditary breast and ovarian cancer cases in the Aegean region of Turkey. In this retrospective study, the medical records of 157 hereditary breast and ovarian cancer cases who presented to the Medical Genetics Clinic at Aydın Adnan Menderes University between 2013 and 2019 were reviewed. BRCA1 and BRCA2 gene analyses for these cases were performed using Sanger sequencing. The results were analyzed by collecting demographic and clinical data, including tumor characteristics and family history. Pathogenic or likely pathogenic variants were identified in 17 cases 11 for BRCA1 and 6 cases 4 for BRCA2. The most common BRCA1 variants were c.66dupA and c.5266dupC, while BRCA2 variants exhibited greater heterogeneity, with no recurrent variants. Breast cancer 72.6 was the most frequent diagnoses, with invasive ductal carcinoma as the predominant histological subtype. The study underscores the importance of population-specific genetic testing strategies to identify BRCA12 variants. The findings reveal a unique variant spectrum in the Aegean Region population, highlighting the absence of globally common variants and the need for comprehensive genetic counseling to improve risk assessment and management for hereditary breast and ovarian cancer patients.

 Batı toplumlarında meme kanseri vakalarının 5-10u kalıtsaldır ve başlıca BRCA1 ve BRCA2 genlerindeki patojenik germ hattı varyantlarından kaynaklanır. Bu varyantları taşıyan kadınların meme kanseri için yaşam boyu riski 40-57 ve over kanseri için 18-40tır. Bu çalışma, Türkiyenin Ege Bölgesindeki kalıtsal meme ve over kanseri vakaları arasında BRCA1 ve BRCA2 varyantlarının sıklığını ve dağılımını araştırmayı amaçlamaktadır. Bu retrospektif çalışmada, Aydın Adnan Menderes Üniversitesinde 2013-2019 yılları arasında Tıbbi Genetik Polikliniğine başvuran ve Sanger dizilemesi ile BRCA12 genleri analiz edilen 157 kalıtsal meme ve over kanseri olgusunun dosyaları taranmıştır. Sonuçlar tümör özellikleri ve aile öyküsü de dahil olmak üzere demografik ve klinik veriler toplanarak analiz edilmiştir. BRCA1 için 17 vakada 11 ve BRCA2 için 6 vakada 4 patojenik veya muhtemel patojenik varyant saptanmıştır. En yaygın BRCA1 varyantları c.66dupA ve c.5266dupC iken, BRCA2 varyantları kümeleşme yapmadan daha fazla heterojenlik göstermiştir. Meme kanseri 72,6 en sık tanı olarak belirlenmiş ve baskın histolojik alt tip olarak invaziv duktal karsinom görülmüştür. Çalışma, BRCA12 varyantlarını belirlemek için popülasyona özgü genetik test stratejilerinin önemini vurgulamaktadır. Bulgular, Ege Bölgesi popülasyonunda benzersiz bir varyant spektrumunu ortaya koyarak, küresel olarak yaygın varyantların çalışma ile uyumlu olmadığını göstermektedir. Ayrıca kalıtsal meme ve yumurtalık kanseri hastalarında risk değerlendirmesini ve hasta yönetimini iyileştirmek için kapsamlı genetik danışmanlığa olan ihtiyacı vurgulamaktadır.

Makale detayları

Spectrum and Prevalence of BRCA1/BRCA2 Variants in Aegean Region Hereditary Breast and Ovarian Cancer Cases

Yazarlar:

Zehra Manav Yiğit | Gökay Bozkurt

Yayıncı:

Mugla Sitki Kocman University

Ana Başlıklar:

Klinik Tıp Bilimleri (Diğer)

Dergi:

Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi Vol.12 Issue 2, pp.120-126

Belge Tipi:

Makale

Yayın Tarihi:

8/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001357186

pISSN:

2148-8118

BRCA1

BRCA2

Hereditary Breast and Ovarian Cancer

HBOC

Sanger SequencingBRCA1

BRCA2

Ailesel Meme ve Yumurtalık Kanseri

Sanger Sekanslama

Sayı

Makale detayları

Yazarlar: Zehra Manav Yiğit | Gökay Bozkurt

Yayıncı: Mugla Sitki Kocman University

Ana Başlıklar: Klinik Tıp Bilimleri (Diğer)

Dergi: Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi Vol.12 Issue 2, pp.120-126

Belge Tipi: Makale

Yayın Tarihi: 8/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001357186

pISSN: 2148-8118

Sayı

Yazarlar:

Zehra Manav Yiğit | Gökay Bozkurt

Yayıncı:

Mugla Sitki Kocman University

Ana Başlıklar:

Klinik Tıp Bilimleri (Diğer)

Dergi:

Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi Vol.12 Issue 2, pp.120-126

Belge Tipi:

Makale

Yayın Tarihi:

8/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001357186

pISSN:

2148-8118