BRCA2 gene mutations in Greek patients with familial breast cancer

Armakolas, Athanasios; Ladopoulou, Angela; Konstantopoulou, Irene; Pararas, B.; Gomatos, Ilias P.; Kataki, Agapi; Konstadoulakis, Manoussos M.; Stathopoulos, George P.; Markopoulos, Christos; Leandros, Emmanuel; Gogas, I.; Yannoukakos, Drakoulis; Androulakis, George

doi:10.1002/humu.9003

Cited by 24 publications

(38 citation statements)

References 15 publications

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“…* described in (18). ** described in (14) and (18) Breast Cancer Res Treat (2008) 107:431-441 437 Apart from the two novel mutations reported here for the first time (G4X and 3783del10 in BRCA2), other novel mutations confined to the Greek population are 3099delT and 3277insG in BRCA1 [11], and 3058delA in BRCA2 [12].…”

Section: Discussionmentioning

confidence: 74%

“…This work concludes our effort to obtain a more complete picture of the BRCA1/BRCA2 mutation spectrum in the Greek population. Our present data were combined with previously published results involving 160 families [11][12][13][14]18], which were recruited in the same manner and selected using the same criteria as here.…”

Section: Discussionmentioning

confidence: 96%

“…On the other hand, other countries appear to exhibit a much broader BRCA1/2 mutation spectrum. This seems to be the case of Greece, where previous studies involving breast-ovarian cancer families showed that BRCA1 5382insC is in fact the most prevalent mutation, with a number of other deleterious mutations found in parallel once or at a very low frequency [11][12][13][14]. Consequently, there is a need to perform BRCA1/ 2 screening on a large number of Greek breast/ovarian cancer families to narrow down the number of mutations to those that are biologically significant for this particular ethnic group.…”

Section: Introductionmentioning

confidence: 83%

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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Konstantopoulou

Ράμπιας²,

Ladopoulou

et al. 2007

Breast Cancer Res Treat

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127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time. Subsequent compilation of our present findings with previously reported mutation data reveals that in a total of 287 Greek breast/ovarian cancer families, 46 and 13 carry a deleterious mutation in BRCA1 and BRCA2, respectively. It should be noted that two BRCA1 mutations, 5382insC and G1738R, both located in exon 20, account for 46% of the families found to carry a mutation. Based on our mutation analysis results, we propose here a hierarchical, cost-effective BRCA1/2 mutation screening protocol for individuals of Greek ethnic origin. The suggested protocol can impact on the clinical management of breast-ovarian cancer families on a national healthcare system level.

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Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 83%

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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Konstantopoulou

Ράμπιας²,

Ladopoulou

et al. 2007

Breast Cancer Res Treat

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“…(30) To improve accuracy, we excluded HRs derived from studies if the number of events in one group was less than five. (31, 32) Heterogeneity was assessed by Chi-square test and expressed by I 2 index,(33) which describes the percentage of total variation across studies that are due to heterogeneity rather than chance (25% low heterogeneity, 50% medium, 75% high). Random effects models were initially used to obtain the summary HRs and 95% CIs, and if there was no heterogeneity among studies, fixed effects models were employed to estimate pooled HRs.…”

Section: Methodsmentioning

confidence: 99%

Effects of BRCA1- and BRCA2-Related Mutations on Ovarian and Breast Cancer Survival: A Meta-analysis

Zhong

Peng

Zhao

et al. 2015

Clinical Cancer Research

173

124

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Purpose To estimate the effects of BRCA1 and BRCA2 mutations on ovarian cancer and breast cancer survival. Experimental Design We searched PUBMED and EMBASE for studies that evaluated the associations between BRCA mutations and ovarian or breast cancer survival. Meta-analysis was conducted to generate combined hazard ratios (HRs) with 95% confidence intervals (CIs) for overall survival (OS) and progression free survival (PFS). Results From 1201 unique citations, we identified 27 articles that compared prognosis between BRCA mutation carriers and non-carriers in ovarian or breast cancer patients. Fourteen studies examined ovarian cancer survival and 13 studies examined breast cancer survival. For ovarian cancer, meta-analysis demonstrated that both BRCA1 and BRCA2 mutation carriers had better OS (HR: 0.76, 95% CI: 0.70-0.83 for BRCA1 mutation carriers; HR: 0.58, 95% CI: 0.50-0.66 for BRCA2 mutation carriers) and PFS (HR: 0.65, 95% CI: 0.52-0.81 for BRCA1 mutation carriers; HR: 0.61, 95% CI: 0.47-0.80 for BRCA2 mutation carriers) compared to non-carriers, regardless of tumor stage, grade, or histologic subtype. Among breast cancer patients, BRCA1 mutation carriers had worse OS (HR: 1.50, 95%CI: 1.11-2.04) than non-carriers, but were not significantly different from non-carriers in PFS. BRCA2 mutation was not associated with breast cancer prognosis. Conclusions Our analyses suggest that BRCA mutations are robust predictors of outcomes in both ovarian and breast cancer and these mutations should be taken into account when devising appropriate therapeutic strategies.

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“…This mutation consists of a deletion of the nucleotides TA that generates the truncation of the BRCA2 protein at codon 1943 [14]. It was firstly identified in Italian Breast and/or Ovarian Carcinoma patients in 1998 [15], but subsequently it has been detected in the ovarian cancer cluster region (OCCR) of Greek patients [16], and in other different population with breast cancer [1]. No published data demonstrated a founder effect of this BRCA2 mutation.…”

Section: Discussionmentioning

confidence: 99%

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

Pilato¹,

Summa²,

Danza³

et al. 2010

Breast Cancer Res Treat

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Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes whose mutations confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time.In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman that developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father respectively. In this family all available members have been investigated. The concomitantly presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.

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BRCA2 gene mutations in Greek patients with familial breast cancer

Cited by 24 publications

References 15 publications

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Effects of BRCA1- and BRCA2-Related Mutations on Ovarian and Breast Cancer Survival: A Meta-analysis

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

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