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SCI JCR Q3 Özgün Makale Scopus
Identifying Genomic Alterations in Patients With Stage IV Breast Cancer Using MammaSeq: An International Collaborative Study
CLINICAL BREAST CANCER 2021 Cilt 21 Sayı 3
Scopus Eşleşmesi Bulundu
2
Atıf
21
Cilt
210-217
Sayfa
Scopus Yazarları: Osama Shiraz Shah, Atilla Soran, Beth A. Knapick, Zeliha Esin Celik, Adrian V. Lee, Mustafa Şahin, Serdar Uğraş, Peter C. Lucas
Özet
Background: Identification of genomic alterations present in cancer patients may aid in cancer diagnosis, prognosis and therapeutic target discovery. In this study, we aimed to identify clinically actionable variants present in stage IV breast cancer (BC) samples. Materials and Methods: DNA was extracted from formalin-fixed paraffin-embedded samples of BC (n = 41). DNA was sequenced using MammaSeq, a BC-specific next-generation sequencing panel targeting 79 genes and 1369 mutations. Ion Torrent Suite 4.0 was used to make variant calls on the raw data, and the resulting single nucleotide variants were annotated using the CRAVAT toolkit. Single nucleotide variations (SNVs) were filtered to remove common polymorphisms and germline variants. CNVkit was employed to identify copy number variations (CNVs). The Precision Medicine Knowledgebase (PMKB) and OncoKB Precision Oncology Database were used to associate clinical significance with the identified variants. Results: A total of 41 samples from Turkish patients with BC were sequenced (read depth of 94-13,340; median of 1529). These patients were diagnosed with various BC subtypes including invasive ductal carcinoma, invasive lobular carcinoma, apocrine BC, and micropapillary BC. In total, 59 different alterations (49 SNVs and 10 CNVs) were identified. From these, 8 alterations (3 CNVs – ERBB2, FGFR1, and AR copy number gains and 5 SNVs – IDH1.R132H, TP53.E204∗, PI3KCA.E545K, PI3KCA.H1047R, and PI3KCA.R88Q) were identified to have some clinical significance by PMKB and OncoKB. Moreover, the top 5 genes with the most SNVs included PIK3CA, TP53, MAP3K1, ATM, and NCOR1. Additionally, copy number gains and losses were found in ERBB2, GRB7, IGFR1, AR, FGFR1, MYC, and IKBKB, and BRCA2, RUNX1, and RB1, respectively. Conclusion: We identified 59 unique alterations in 38 genes in 41 stage IV BC tissue samples using MammaSeqTM. Eight of these alterations were found to have some clinical significance by OncoKB and PKMB. This study highlights the potential use of cancer specific next-generation sequencing panels in clinic to get better insight into the patient-specific genomic alterations.
Anahtar Kelimeler (Scopus)
Clinical genomics NGS panel Turkish population Clinical utility Targeted next generation sequencing

Anahtar Kelimeler

Clinical genomics Clinical utility NGS panel Targeted next generation sequencing Turkish population

Makale Bilgileri

Dergi CLINICAL BREAST CANCER
ISSN 1526-8209
Yıl 2021 / 1. ay
Cilt / Sayı 21 / 3
Makale Türü Özgün Makale
Hakemlik Hakemli
Endeks SCI
JCR Quartile Q3
Yayın Dili Türkçe
Kapsam Ulusal
Toplam Yazar 1 kişi
Erişim Türü Basılı
Alan Sağlık Bilimleri Temel Alanı Tıbbi Patoloji Clinical genomics, Clinical utility, NGS panel, Targeted next generation sequencing, Turkish population

YÖKSİS Yazar Kaydı

Yazar Adı UĞRAŞ NEVZAT SERDAR
YÖKSİS ID 8878622

Metrikler

Scopus Atıf 2
JCR Quartile Q3
Yazar Sayısı 1