BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses

Russo, Antonio; Calò, Valentina; Agnese, Valentina; Bruno, Loredana; Corsale, S; Augello, Claudia; Gargano, G; Barbera, Floriana; Cascio, Sandra; Intrivici, Chiara; Rinaldi, Gaetana; Gulotta, Gaspare; Macaluso, Marcella; Surmacz, Eva; Giordano, Antonio; Gebbia, Nicola; Bazan, Viviana

doi:10.1007/s10549-006-9456-9

Cited by 28 publications

(26 citation statements)

References 44 publications

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“…The detection rate comparable to ours was reported in the Sicilian population 16% [26], or in Spain 17.1% [27].…”

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysissupporting

confidence: 90%

“…The lowest rate of only 10% was present in families with unilateral breast cancer. According to the reported data and also comparing with other studies [25,26,28,29], the presence of ovarian cancer in association with breast cancer serves as a potential predictive factor for BRCA1 mutation positivity and represents the strongest indication. On the other hand, the presence of bilateral ovarian (17%) or breast (13%) cancer is still stronger criterion for selection as the familiar unilateral cancer.…”

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysismentioning

confidence: 66%

“…Mutations c.4065_4068del4 and p.Arg1443X were found in Sweden [31], p.Arg1443X in the Sicilian population [26] as well as in the French population as a founder mutation [32]. Other Slovak low frequency BRCA1 pathogenic mutations were not occuring in any European HBOC report.…”

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysismentioning

confidence: 85%

“…Interestingly, a minimum of nonsense mutations was identified in exon 11 [21,25,26,28,29] in comparison to other types of mutations in this exon and no causal missense mutations were present in this exon due to the lack of highly conserved domain in this region. However, it can not be excluded that some of the frequently occurring missense variants with uncertain clinical significance localized mainly in exon 11 (and similarly in exon 16), might have some effect on the protein function and thus play a role in the development of HBOC phenotype.…”

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysismentioning

confidence: 99%

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Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia

Konečný

Milly

Zavodna

et al. 2011

Breast Cancer Res Treat

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Germline mutations in the BRCA1/2 genes account for the majority of hereditary breast ovarian cancer (HBOC).Identification of causal mutations may have significant impact on clinical management of such families. Despite high mutation detection rate, many HBOC cases remain without identified cause. These cases warrant use of several analysis methods, such as those for large genomic rearrangements and DNA copy number changes, or analysis other genes, shown to be associated with increased HBOC risk.We assessed 585 Slovak HBOC for presence of mutations in BRCA genes. Sequencing revealed mutations in 100 families, representing 17.1% (88% and 12% of mutations were located in BRCA1 and BRCA2, respectively).Four of the mutations, c.80+4del4, c.1938_1947del10 and c.1166delG in BRCA1 and c.6589delA in BRCA2 gene have been described only in Slovak population. Using MLPA analysis, we detected two large genomic rearrangements in 3 families, a deletion of exons 21 and 22, and a rare deletion of a whole BRCA1 gene. Twentyseven different variants of uncertain clinical effect (4 novel) and 14 distinct SNP BRCA1 haplotypes were detected. Their potential effect was considered using the prediction software packages Align GVGD, Pmut and Polyphen.We observed that the best clinical criterion for the initiation of BRCA1 analysis is the presence of breast cancer at 40 years of age in the association with the presence of ovarian cancer diagnosed around the age of 50.Conversely, the best clinical criterion for starting with BRCA2 analysis is the presence of breast cancer diagnosed in older age (above 50), or the presence of breast cancer in conjunction with carcinomas at different sites e.g. prostate, colorectum, ovary, uterus. Finally we have seen that the analyses of other HBOC risk gene TP53 and specific mutation in CHEK2*c.1100delC in Slovak HBOC families were not efficient since no mutations were found in these genes. 2

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“…The detection rate comparable to ours was reported in the Sicilian population 16% [26], or in Spain 17.1% [27].…”

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysissupporting

confidence: 90%

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysismentioning

confidence: 66%

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysismentioning

confidence: 85%

Section: Other Hboc Risk Genes -Tp53 Chek2*1100delc Analysismentioning

confidence: 99%

See 2 more Smart Citations

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia

Konečný

Milly

Zavodna

et al. 2011

Breast Cancer Res Treat

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“…Mutations in the RING finger domain were detected in breast cancer patients from Chile, Japan and India (25)(26)(27), and several large studies in Italy and Germany (6,(28)(29)(30)(31)(32)(33)(34)(35)(36)(37) showed polymorphisms and mutations in this region in patients but also in the control population. However, consistent with the conserved status of the region, we did not detect any variants of the RING finger domain in the healthy Croatian population.…”

Section: Distribution Of Variants Across the Protein Domainsmentioning

confidence: 99%

New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia

Cvok¹,

Čretnik²,

Musani³

et al. 2008

Clinical Chemistry and Laboratory Medicine

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Background: Mutations in BRCA1 and BRCA2 genes are associated with family predisposition to breast and ovarian cancer. Novel screening methods are required for efficient and rapid detection of sequence variants in cancer patients and their family members. Methods: The screening for variants in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 in Croatia was performed by a high-resolution melting approach, which is based on differences in melting curves caused by variations in nucleotide sequence. This is the first screening in Croatia on elderly healthy women with no family history of cancer. BRCA1 screening was performed on 220 and BRCA2 screening on 115 samples.

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BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases

Falchetti

Lupi

Rizzolo

et al. 2007

Breast Cancer Res Treat

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Male breast cancer (MBC) is a rare and poorly known disease. Germ-line mutations of BRCA2 and, to lesser extent, BRCA1 genes are the highest risk factors associated with MBC. Interestingly, BRCA2 germ-line rearrangements have been described in high-risk breast/ovarian cancer families which included at least one MBC case. Germ-line mutations of CHEK2 gene have been also implicated in inherited MBC predisposition. The CHEK2 1100delC mutation has been shown to increase the risk of breast cancer in men lacking BRCA1/BRCA2 mutations. Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate cancer. Here, we investigated the contribution of BRCA1, BRCA2 and CHEK2 alterations to MBC predisposition in Italy by analysing a large series of MBC cases, unselected for breast cancer family history and all negative for BRCA1/BRCA2 germ-line mutations. A total of 102 unrelated Italian MBC cases were screened for deletions/duplications of BRCA1, BRCA2 and CHEK2 by multiplex ligation-dependent probe amplification. No BRCA1, BRCA2 and CHEK2 genomic rearrangements, including the CHEK2 del9-10, were found in the series analysed. Furthermore, none of the MBC cases and 263 male population controls, also included in this study, carried the CHEK2 1100delC, IVS2+1G>A and I157T common mutations. Overall, our data suggest that screening of BRCA1/2 rearrangements is not advantageous in MBC cases not belonging to high-risk breast cancer families and that common CHEK2 mutations play an irrelevant role in MBC predisposition in Italy.

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BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses

Cited by 28 publications

References 44 publications

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia

New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia

BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases

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