<i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutation testing in Cyprus; a population based study

Loizidou, Maria A.; Hadjisavvas, Andreas; Pirpa, Panagiota; Spanou, Elena; Delikurt, Türem; Tanteles, George A.; Daniel, Maria; Kountourakis, Panteleimon; Malas, Simon; Ioannidis, Georgios; Zouvani, Ioanna; Kakouri, Eleni; Papamichael, Demetris; Marcou, Yiola; Anastasiadou, Violetta; Kyriacou, Kyriacos

doi:10.1111/cge.12886

Cited by 8 publications

(6 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Results obtained in our cohort corroborate the previously reported studies that investigated only BRCA genes within familial patients [26]. Of the 11 germline mutations, we identified 10 sequence variants in BRCA1 and BRCA2 genes, including 13.95% (6/43) cases carrying a pathogenic mutation and the frequency correlate strongly with Cyprus study that reported a similar clinical yield of 13% for BRCA genes [27]. Despite of small cohort size, we have found germline pathogenic mutation impact on BRCA2 (9.30%, 4/43) which is approximately 2-fold higher than BRCA1 (4.65%, 2/43), suggesting that BRCA2 is frequently mutated or altered in our cohort.…”

Section: Discussionsupporting

confidence: 89%

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

Akter¹,

Sultana

Martuza³

et al. 2019

BMC Med Genet

View full text Add to dashboard Cite

Background Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to explore the diagnostic yield of targeted sequencing of the high priority BC genes. Methods We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes ( BRCA1 , BRCA2 , ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh ( n = 52) by using tumor and blood samples. Results Blood derived targeted sequencing revealed 25.58% (11/43) clinically relevant mutations (both pathogenic and variants of uncertain significance (VUS)), with 13.95% (6/43) of samples carrying a pathogenic mutations. We have identified and validated five novel pathogenic germline mutations in this cohort, comprising of two frameshift deletions in BRCA2, and missense mutations in BRCA1 , BRCA2 and ERBB2 gene respectively. Furthermore, we have identified three pathogenic mutations and a VUS within three tumor samples, including a sample carrying pathogenic mutations impacting both TP53 (c.322dupG; a novel frameshift insertion) and BRCA1 genes (c.116G > A). 22% of tissue samples had a clinically relevant TP53 mutation. Although the cohort is small, we have found pathogenic mutations to be enriched in BRCA2 (9.30%, 4/43) compare to BRCA1 (4.65%, 2/43). The frequency of germline VUS mutations found to be similar in both BRCA1 (4.65%; 2/43) and BRCA2 (4.65%; 2/43) compared to ERBB2 (2.32%; 1/43). Conclusions This is the first genetic study of BC predisposition genes in this population, implies that genetic screening through targeted sequencing can detect clinically significant and actionable BC-relevant mutations. Electronic supplementary material The online version of this article (10.1186/s12881-019-0881-0) contains supplementary material, which is available to authorized users.

show abstract

Section: Discussionsupporting

confidence: 89%

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

Akter¹,

Sultana

Martuza³

et al. 2019

BMC Med Genet

View full text Add to dashboard Cite

show abstract

“…We focused our study on variant detection rates and genetic characteristics associated with specific selection criteria for BRCA1/2 testing in high-risk families and patients affected by breast cancer, whereas other authors evaluated clinical implications and strategy of surveillance of women at high risk. Thirteen percent of the individuals evaluated were carriers of a pathogenic variant, according to the range shown in other countries [ 27 , 28 , 29 , 30 ], excluding Ashkenazi Jewish ancestry in which founder variants were prevalent [ 31 ]. The incidence of BRCA1 and BRCA2 variants was 7.7% and 6.3%, respectively.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study

Foglietta

Ludovini

Bianconi

et al. 2020

Genes

View full text Add to dashboard Cite

Hereditary breast and ovarian cancers are mainly linked to variants in BRCA1/2 genes. Recently, data has shown that identification of BRCA variants has an immediate impact not only in cancer prevention but also in targeted therapeutic approaches. This prospective observational study characterized the overall germline BRCA variant and variant of uncertain significance (VUS) frequency and spectrum in individuals affected by breast (BC) or ovarian cancer (OC) and in healthy individuals at risk by sequencing the entire BRCA genes. Of the 363 probands analyzed, 50 (13.8%) were BRCA1/2 mutated, 28 (7.7%) at BRCA1 and 23 (6.3%) at BRCA2 gene. The variant c.5266dupC p.(Gln1756Profs) was the most frequent alteration, representing 21.4% of the BRCA1 variants and 12.0% of all variants identified. The variant c.6313delA p.(Ile2105Tyrfs) of BRCA2 was the most frequent alteration observed in 6 patients. Interestingly, two new variants were identified in BRCA2. In addition, 25 different VUS were identified; two were reported for the first time in BRCA1 and two in BRCA2. The number of triple-negative BCs was significantly higher in patients with the pathogenic BRCA1/2-variant (36.4%) than in BRCA1/2 VUS (16.0%) and BRCA1/2 wild-type patients (10.7%) (p < 0.001). Our study reveals that the overall frequency of BRCA germline variants in the selected high-risk Italian population is about 13.8%. We believe that our results could have significant implications for preventive strategies for unaffected BRCA-carriers and effective targeted treatments such as PARP inhibitors for patients with BC or OC.

show abstract

“…The clinicopathological and prognostic characteristics of patients with ovarian cancer in Cyprus are currently not well understood. While there are a few studies in the literature that explore hereditary ovarian cancer and gene mutations of BRCA1 and BRCA2 [32][33][34], research specifically focusing on the prognostic factors of ovarian cancer has not been conducted in Cyprus. Thus, the aim of this study was to investigate and examine the factors that are linked to the overall survival (OS) and progression-free survival (PFS) of individuals diagnosed with ovarian cancer in the republic of Cyprus.…”

Section: Introductionmentioning

confidence: 99%

Prognostic Factors Influencing Survival in Ovarian Cancer Patients: A 10-Year Retrospective Study

Andreou,

Kyprianidou,

Cortas

et al. 2023

Cancers

View full text Add to dashboard Cite

Objective: To analyze the factors associated with overall survival (OS) and progression-free survival (PFS) in patients with ovarian cancer in Cyprus. Methods: We retrospectively analyzed data from patients with histologically confirmed epithelial ovarian cancer (EOC) and primary peritoneal cancer (PPC). Results: A total of 106 women diagnosed with ovarian cancer were included, with a median age at diagnosis of 58 years. The Kaplan–Meier survival analysis showed a median OS of 41 months (95% C.I = 36.9, 45.1), and the FIGO stage (p < 0.001), type of surgery (p < 0.001) and performance status (p < 0.001) were identified as statistically significant prognostic factors for OS. PFS analysis revealed the FIGO stage (p = 0.006) and the performance status (p < 0.001) as significant prognostic factors. Additionally, a Cox regression analysis for median OS was performed for patients with high-grade serous carcinoma, identifying the performance status, FIGO stage, and type of surgery as prognostic factors in univariate analysis. However, in the subsequent multivariate analysis, the performance status and the FIGO stage were confirmed to be the only statistically significant prognostic factors for OS (p < 0.05). Conclusions: This study confirms that the FIGO stage, performance status, and surgery type were considered as prognostic factors for OS in ovarian cancer.

show abstract

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study

Cited by 8 publications

References 27 publications

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study

Prognostic Factors Influencing Survival in Ovarian Cancer Patients: A 10-Year Retrospective Study

Contact Info

Product

Resources

About