The R71G<i>BRCA1</i>is a founder Spanish mutation and leads to aberrant splicing of the transcript

Vega, Ana; Campos, Bieito; Paillerets, Brigitte Bressac-de; Bond, Patricia M.; Janin, Nicolas; Douglas, Fiona S.; Domènech, Montserrat; Baena, Manel; Pericay, Carles; Alonso, Carmen; Carracedo, Ángel; Baiget, Montserrat; Díez, Orland

doi:10.1002/humu.1136

Cited by 112 publications

(98 citation statements)

References 18 publications

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“…This mutation results in an amino acid change at codon 71 (R71G), occurs at the 3h end of exon 5 of BRCA1, and has been described as a splicing mutation with Spanish founder origin (Vega et al 2001), and probably with a more local distribution on the Northwest of the Iberian Peninsula, as supported in this paper. The proband of Family V was diagnosed as having bilateral breast cancer at 27 and 30 years of age.…”

Section: supporting

confidence: 59%

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Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula

Vega

Torres

Martínez

et al. 2002

Annals of Human Genetics

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An estimated 5-10 % of all breast and ovarian cancers are due to an inherited predisposition, representing a rather large number of patients. In Spain 1\13-1\14 women will be diagnosed with breast cancer during their lifetime. Two major breast cancer genes, BRCA1 and BRCA2, have been identified. To date, several hundred pathogenic mutations in these two genes have been published or reported to the Breast Cancer Information Core, BIC database (http:\\www.nhgri.nih.gov\ IntramuralIresearchILab transfer\Bic\index.html). In the present study, 30 Spanish breast and breast\ovarian cancer families (29 from Galicia, NW Spain, and 1 from Catalonia, NE Spain) were screened for mutations in the BRCA1 and BRCA2 genes. The analysis of these genes was carried out by SSCP for shorter exons and direct sequencing in the case of longer ones. Mutations were found in 8 of the 30 families studied (26n66 %). It is important to note that all mutations were detected within the BRCA1 gene : 330 A G, 910I913delGTTC, 2121 C T, 3958I3962delCTCAGinsAGGC, and 5530 T A. The BRCA1 330 A G mutation was found in four unrelated families and accounted for 50 % of all identified mutations. Since the identification of the BRCA1 and BRCA2 genes (MIMFs 113705 and 600185), more than nine hundred different mutations have been identified in these genes (BIC Database). BRCA1 maps to chromosome 17q21 (Miki et al. 1994) and predisposes to early-onset hereditary breast and ovarian cancer. BRCA2, located at 13q12-q13 (Wooster et al. 1995), also predisposes to earlyonset breast cancer in women, but confers a higher risk of inherited male breast cancer and a lower risk of familiar ovarian cancer compared to BRCA1. Both genes are characterized for their large size and complex genomic structures :

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Section: supporting

confidence: 59%

“…ez et al 1999) and in samples of Spanish origin from France and the United Kingdom (Vega et al 2001), traditional areas of Galician emigration. The high prevalence of the 330 A G mutation in Galicia suggests that the Northwest of Spain is the region where this mutation originated.…”

Section: mentioning

confidence: 98%

Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula

Vega

Torres

Martínez

et al. 2002

Annals of Human Genetics

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“…In fact, founder effects have been commonly observed in Galicia. For instance, the founder mutation BRCA1 330A>G (p.R71G) explains more than 50% of all inherited breast cancer cases in this population, 32 while in other Spanish as well as Caucasian populations it is not observed.…”

Section: Discussionmentioning

confidence: 73%

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

Mančíková

Cruz

Inglada-Pérez

et al. 2015

Intl Journal of Cancer

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Thyroid cancer is the most heritable cancer of all those not displaying typical Mendelian inheritance. However, most of the genetic factors that would explain the high heritability remain unknown. Our aim was to identify additional common genetic variants associated with susceptibility to this disease. In order to do so, we performed a genome-wide association study in a series of 398 cases and 502 controls from Spain, followed by a replication in four well-defined Southern European casecontrol collections contributing a total of 1,422 cases and 1,908 controls. The association between the variation at the 9q22 locus near FOXE1 and thyroid cancer risk was consistent across all series, with several SNPs identified (rs7028661: OR 5 1.64, p 5 1.0 3 10 222

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“…The origin of BRCA2 9254delATCAT is not known, but in this study those families testing positive for this mutation were from the Almeria province in the south of Spain. Among the other mutations reported in more than two kindreds (Table 3), BRCA1 R71G was seen in Spanish families of Galician ancestry (Vega et al, 2001). No region of origin was given for patients with BRCA2 3034delAAAC or 6857delAA.…”

Section: Discussionmentioning

confidence: 99%

“…For example, BRCA1 Arg71Gly was reported in one family from Colombia (Vega et al, 2001), one Carribean Hispanic family (Breast Cancer Information Core), and one family from Mexico (Alvarez-Franco et al, 2001). …”

Section: Discussionmentioning

confidence: 99%

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain

Llort

Muñoz²,

Tuser³

et al. 2002

Hum. Mutat.

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BRCA1 and BRCA2 mutations underlie a substantial proportion of all hereditary breast cancer. The mutational spectrum in these genes is very broad, with hundreds of different BRCA mutations reported worldwide. However, high frequency founder mutations make up a substantial fraction of all mutations in some ethnic groups. We directly sequenced BRCA1 and BRCA2 in 35 Spanish breast/ovarian cancer families and found 13 mutations of which 3 had been reported previously in Spain. The ten novel mutations are: IVS5+1 G>A, 1491delA, Leu1086Ter, and Gln895Ter in BRCA1; Glu49Ter, 5373delGTAT, 5947delCTCT, 6672delTA, 8281insA, and Pro3039Leu (which also involves a splice site) in BRCA2. Our data, in combination with previous reports, indicate that 14 mutations have been seen recurrently in Spanish families. Analyzing these 14 mutations in 42 previously untested breast/ovarian cancer families revealed only two families testing positive, one for BRCA1 185delAG and one for BRCA2 9254delATCAT. While several mutations have been found recurrently in Spain, none appear to be high frequency founder mutations based on studies of breast and ovarian cancer families.

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The R71GBRCA1is a founder Spanish mutation and leads to aberrant splicing of the transcript

Cited by 112 publications

References 18 publications

Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula

Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain

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