Your browser doesn't support javascript.
loading
Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.
Nassar, Auhood; Abouelhoda, Mohamed; Mansour, Osman; Loutfy, Samah A; Hafez, Mohamed M; Gomaa, M; Bahnassy, Abeer; El-Din Youssef, Amira Salah; Lotfy, Mai M; Ismail, Hoda; Ahmed, Ola S; Abou-Bakr, Amany Abd-Elhameed; Zekri, Abdel-Rahman N.
Affiliation
  • Nassar A; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Abouelhoda M; Faculty of Engineering, Cairo University, Cairo, Egypt.
  • Mansour O; Medical Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Loutfy SA; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Hafez MM; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Gomaa M; Radiology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Bahnassy A; Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • El-Din Youssef AS; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Lotfy MM; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Ismail H; Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Ahmed OS; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Abou-Bakr AA; Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
  • Zekri AN; Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
J Adv Res ; 24: 149-157, 2020 Jul.
Article in En | MEDLINE | ID: mdl-32322420
Breast cancer (BC) incidence is progressively increasing in Egypt. However, there is insufficient knowledge of the acquired somatic mutations in Egyptian BC patients which limit our understanding of its progression. To the best of our knowledge, this is the first Egyptian cohort to sequence a multiple-gene panel of cancer related genes on BC patients. Four hundred and nine cancer related genes were sequenced in 46 fresh breast tumors of Egyptian BC patients to identify somatic mutations and their frequencies. TP53 and PIK3CA were the most top two frequently mutated genes. We detected 15 different somatic mutations in TP53 and 8 different ones in PIK3CA, each in 27 samples (58.7%). According to Clinvar database; we found 19 pathogenic somatic mutations: 7 in Tp53, 5 in PIK3CA, and single variants of VHL, STK11, AKT1, KRAS, IDH2, PTEN and ERBB2. We also identified 5 variants with uncertain significance (4 in TP53 and 1 in CEBPA) and 4 variants with conflicting interpretations of pathogenicity (2 in TP53 and 1 in each of APC and JAK3). Moreover, one drug response variant (p.P72R) in TP53 was detected in 8 samples. Furthermore, four novel variants were identified in JAK2, MTOR, KIT and EPHB. Further analysis, by Ingenuity Variant Analysis software (IVA), showed that PI3K/AKT signaling is altered in greater than 50% of Egyptian BC patients which implicates PI3K/AKT signaling as a therapeutic target. In this cohort, we shed the light on the most frequently detected somatic mutations and the most altered pathway in Egyptian BC patients.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Risk_factors_studies Language: En Journal: J Adv Res Year: 2020 Document type: Article Affiliation country: Egypt Country of publication: Egypt

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Risk_factors_studies Language: En Journal: J Adv Res Year: 2020 Document type: Article Affiliation country: Egypt Country of publication: Egypt