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dc.contributor.authorTsaousis, Georgios N.
dc.contributor.authorPepe, Georgia
dc.contributor.authorKampouri, Stavroula
dc.contributor.authorNasioulas, George
dc.contributor.authorSezgin, Efe
dc.contributor.authorSoran, Atilla
dc.contributor.authorÇAĞLAYAN, AHMET OKAY
dc.contributor.authorYararbas, Kanay
dc.contributor.authorOrdu, Cetin
dc.contributor.authorAktepe, Fatma
dc.contributor.authorOzmen, Tolga
dc.contributor.authorIlgun, Ahmet Serkan
dc.contributor.authorSoybir, Gursel
dc.contributor.authorAlco, Gul
dc.contributor.authorOzmen, Vahit
dc.contributor.authorPapadopoulou, Eirini
dc.contributor.authorAgiannitopoulos, Konstantinos
dc.date.accessioned2022-07-04T15:53:51Z
dc.date.available2022-07-04T15:53:51Z
dc.date.issued2022
dc.identifier.citationOzmen V., ÇAĞLAYAN A. O. , Yararbas K., Ordu C., Aktepe F., Ozmen T., Ilgun A. S. , Soybir G., Alco G., Tsaousis G. N. , et al., "Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer", ONCOLOGY LETTERS, cilt.23, sa.4, 2022
dc.identifier.issn1792-1074
dc.identifier.othervv_1032021
dc.identifier.otherav_c8b4fdd5-0a0a-4bf8-bd61-b260811bae9c
dc.identifier.urihttp://hdl.handle.net/20.500.12627/184656
dc.identifier.urihttps://doi.org/10.3892/ol.2022.13238
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/c8b4fdd5-0a0a-4bf8-bd61-b260811bae9c/file
dc.description.abstractNext-generation sequencing (NGS) technology is used to evaluate hereditary cancer risks of patients worldwide; however, information concerning the germline multigene mutational spectrum among patients with breast cancer (BC) with consanguineous marriage (CM) is limited. Therefore, this prospective study aimed to determine the molecular characteristics of patients with BC who were tested with multigene hereditary cancer predisposition NGS panel and to show the effect of CM on cancer-related genes. Patients with BC with or without CM and family history (FH) of BC treated in our breast center were selected according to The National Comprehensive Cancer Network (NCCN) criteria for hereditary BC. In these patients, the analysis of a panel of 33 genes involved in hereditary cancer predisposition was performed after genetic counseling by using NGS. The pathogenic variant (PV) and the variant of uncertain significance (VUS) were found to be 15.8 and 47.4%, respectively. PVs were identified in 10/33 genes in 34 patients; 38.2% in BRCA1/2 genes; 6, 24, and 14% in other high, moderate and low-risk genes, respectively. The CM rate was 17.7% among the 215 patients with BC. The PV rate was 13.2% in patients with CM and 16.4% in patients without CM (P=0.80). When PV and VUS were evaluated together, the PV+VUS ratio was significantly higher in patients with CM and FH of BC than patients without CM and FH of BC (88.2 vs. 63.3%, P=0.045). Analysis of multigene panel provided 9.76% additional PVs in moderate/low-risk genes. The PV rate was similar in patients with BC with or without CM. A high PV+VUS ratio in patients with CM and FH of BC suggests that genes whose importance are unknown are likely to be pathogenic genes later.
dc.language.isoeng
dc.subjectOncology
dc.subjectONKOLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectOnkoloji
dc.subjectHealth Sciences
dc.titleImportance of multigene panel test in patients with consanguineous marriage and family history of breast cancer
dc.typeMakale
dc.relation.journalONCOLOGY LETTERS
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Cerrahi Tıp Bilimleri Bölümü
dc.identifier.volume23
dc.identifier.issue4
dc.contributor.firstauthorID3395696


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