BRCA1–2 mutations in breast cancer: Identification of nine new variants of BRCA1–2 genes in a population from central Western Spain

Salazar, Raquel; Cruz-Hernández, Juan J.; Sánchez-Valdivieso, Enrique Alejandro; Gómez-Bernal, Amalia; Barco, Elviradel; Fonseca, E.; Portugal, Teresa de; González‐Sarmiento, Rogelio

doi:10.1016/j.canlet.2005.03.006

Cited by 24 publications

(26 citation statements)

References 11 publications

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“…These percentages are slightly closer to those described for other sections of the Spanish population studied [15]. In addition, although we only studied 3 families with previous history of MBC, 2 of these (66.66%) had mutations in BRCA2, which agrees with the findings of other authors [16].…”

Section: Discussionsupporting

confidence: 80%

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling

Beristain

Martínez-Bouzas

Guerra

et al. 2007

Breast Cancer Res Treat

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The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations. Two hundred and thirty-six breast and/or ovarian cancer patients were analysed to clarify the role of these genes in the Basque Country. We also studied 130 healthy women from the general population from the same region. Fifteen different pathological mutations were found in 16 index cases: 10 truncating mutations, 4 missense mutations and 1 splicing mutation. c.3002_3003insT and c.5788_5789delGT, both in exon 11 of BRCA2 have not previously been described. No pathological mutations were found in cases of sporadic juvenile breast cancer. There are no recurrent mutations in our population; apart from the mutation c.9254_9258del5, which appears in only two index cases. We have also found a lot of variants whose effect is unknown. From these variants, 17 have not previously been described: 6 missenses, 6 synonymous and 5 alterations in intronic regions. We would like to highlight the fact that 14.3% of patients with 3 or more cases of breast cancer in the family, and 16.7% of patients with family history of breast and ovarian cancer, present a pathological mutation in BRCA1 or BRCA2. This manuscript demonstrates that each population can have different mutations and due to this, Genetic Counselling and selection criteria must be different for each population. Furthermore, this article describes for the first time some new mutations and unclassified variants found in our population.

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Section: Discussionsupporting

confidence: 80%

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling

Beristain

Martínez-Bouzas

Guerra

et al. 2007

Breast Cancer Res Treat

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“…These two disease causing germline mutations were identiWed in 2.08% [2/96] of breast/breast ovarian cancer families analyzed. This mutation frequency is in agreement with previous reports in other populations (Chen et al 1998;Yazici et al 2000;Salazar et al 2006). But studies on several other populations had reported comparatively higher pathogenic mutation frequencies for BRCA2 gene (Austria 8% by Wagner et al 1999;Dutch 12% by Peelen et al 2000;Germany 12% by Hamann et al 2002; Portuguese 7% by Peixoto et al 2006).…”

Section: Discussionsupporting

confidence: 93%

Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast–ovarian cancer families from Kerala, South India

Syamala

Sreeja

Syamala

et al. 2007

J Cancer Res Clin Oncol

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“…We compared the results of BRCA1 and BRCA2 genetic testing previously reported in seven different areas of Spain: Galicia (North West) [5], Salamanca (West) [8], Castilla-León (North West-central) [9], Basque Country (North) [10], Aragón (North East) [11], Catalonia (North East-Mediterranean) [12], and Valencia (East) [13] ( Fig. 1).…”

Section: Methodsmentioning

confidence: 99%

“…Mutation analyses were done using a combination of different screening methods followed by sequencing of samples with abnormal patterns: SSCP (single strand conformation polymorphism) [5], CSGE (conformationalsensitive gel electrophoresis) [8,10], CSGE or fluorescent HA-CAE (heteroduplex analysis with capillary array electrophoresis [9], DHPLC (denaturing high-performance liquid chromatography) [11], and direct sequencing [12]. The analyses included screening of the entire sequence of both genes or at least up the identification of a clear deleterious mutation.…”

Section: Methodsmentioning

confidence: 99%

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

2009

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BRCA1 and BRCA2 genes have a high allelic heterogeneity. The knowledge of the most prevalent mutations and their geographical distribution can be useful in designing efficient mutational screening. In the present work we reviewed the frequency of BRCA1 and BRCA2 recurrent mutations in seven geographic areas of Spain to evaluate the effects of their heterogeneous prevalence in genetic testing. We observed that prevalence of recurrent mutations vary according to the geographical origin of the studied families, and accounted for a variable number of positive families depending on the series. Therefore, more upcoming data of larger Spanish population cohorts collected from different areas in the country will allow to design a wider comprehensive panel of recurrent mutations that may be applicable worldwide to families with Hispanic origin.

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BRCA1–2 mutations in breast cancer: Identification of nine new variants of BRCA1–2 genes in a population from central Western Spain

Cited by 24 publications

References 11 publications

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling

Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast–ovarian cancer families from Kerala, South India

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

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