Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer

Celik, Elifnaz; Ermis Tekkus, Kubra; Akçay, İzzet; Alkurt Sal, Gizem; Ezberci, Fikret; Dinler Doğanay, Gizem; Doganay, Levent

doi:10.1002/ccr3.1625

Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer

Celik E., Ermis Tekkus K., Akçay İ. M., Alkurt Sal G., Ezberci F., Dinler Doğanay G., ...Daha Fazla

Clinical Case Reports, cilt.6, sa.9, ss.1751-1755, 2018 (Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 6 Sayı: 9
Basım Tarihi: 2018
Doi Numarası: 10.1002/ccr3.1625
Dergi Adı: Clinical Case Reports
Derginin Tarandığı İndeksler: Scopus
Sayfa Sayıları: ss.1751-1755
Anahtar Kelimeler: ATM, BRCA1/2, early-onset breast cancer, genetics, multi-gene panel testing, oncology
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

We used a multi-gene panel testing to identify the germline variants in a mother-daughter pair with early-onset breast cancer, and detected one pathogenic protein-truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.