CHEK2 1100delC is present in familial breast cancer cases of the Basque Country

Martínez-Bouzas, Cristina; Beristain, Elena; Guerra, I.; Gorostiaga, Javier Martínez; Mendizabal, J. L.; De-Pablo, Jose-Luis; García-Alegría, Eva; Sanz-Parra, Arantza; Tejada, María-Isabel

doi:10.1007/s10549-006-9351-4

Cited by 24 publications

(16 citation statements)

References 8 publications

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“…CNAs have been demonstrated to determine cancer predisposition in most high risk cancer syndromes. Among CNAs alterations we focused our attention on those belonging to regions including genes usually linked to breast cancer biology [14].…”

Section: Discussionmentioning

confidence: 99%

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Gene copy number variation in male breast cancer by aCGH

Tommasi¹,

Mangia²,

Iannelli³

et al. 2011

Cell Oncol.

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Abstract.Background: Male breast cancer (MBC) is a rare disease and little is known about its etiopathogenesis. Array comparative genomic hybridization (aCGH) provides a method to quantitatively measure the changes of DNA copy number and to map them directly onto the complete linear genome sequences. The aim of this study was to investigate DNA imbalances by aCGH and compare them with a female breast cancer dataset.Methods: We used Agilent Human Genome CGH Microarray Kit 44B and 44K to compare genomic alterations in 25 male breast cancer tissues studied at NCC of Bari and 16 female breast cancer deposited with the Gene Expression Omnibus (GSE12659). Data analysis was performed with Nexus Copy Number 5.0 software.Results: All the 25 male and 16 female breast cancer samples displayed some chromosomal instability (110.93 alterations per patient in female, 69 in male). However, male samples presented a lower frequency of genetic alterations both in terms of loss and gains.Conclusion: aCGH is an effective tool for analysis of cytogenetic aberrations in MBC, which involves different biological processes than female. Male most significant altered regions contained genes involved in cell communication, cell division and immunological response, while female cell-cell junction maintenance, regulation of transcription and neuron development.

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Section: Discussionmentioning

confidence: 99%

“…In families with CHEK2*1100delC variant, the risk of MBC was reported as ten times greater than normal [8]. Interestingly, the contribution of the CHEK2*1100delC mutation to BC predisposition varies by ethnic group and from country to country [4,14].…”

Section: Introductionmentioning

confidence: 99%

Gene copy number variation in male breast cancer by aCGH

Tommasi¹,

Mangia²,

Iannelli³

et al. 2011

Cell Oncol.

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“…In our study, none of the 102 MBC cases, analysed by MLPA, and none of the 263 healthy adult male population controls, screened by direct sequencing, carried the CHEK2 1100delC mutation, thus suggesting that this mutation is very infrequent in the Italian male population. Indeed, a decreased frequency of the 1100delC allele in North to South orientation has been observed in Europe [26,27]. In Italy, this variant has been reported to play an irrelevant role for BC risk in females [28].…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, the contribution of the CHEK2 1100delC mutation to BC predisposition varies by ethnic group and from country to country. A decreased frequency of the 1100delC allele in North to South orientation has been observed in Europe [26,27]. In Italy, this variant has been shown to play an irrelevant role for BC risk in female [28], however, the role of the CHEK2 1100delC has not been investigated in Italian MBC.…”

Section: Introductionmentioning

confidence: 99%

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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“…The c.1100DelC CHEK2 mutation frequency varies according to the population studied. The highest frequencies have been observed in Northern Europe (1-11%) probably caused by an common ancestral origin [14,15] but this variant is infrequent to absent in populations from Southern Europe including the Basque country (0.93%) [16], as well as the Spanish [17] or Italian [18] populations. The extremely low frequency of this mutation in our population coming from the south west of France confirms its weak relevance for the practical clinic in populations from Southern Europe.…”

Section: Letter To the Editormentioning

confidence: 99%