Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families

Jara, Lilian; Ampuero, Sandra; Santibáñez, Eudocia; Seccia, L.; Rodríguez, Juan José Tavárez; Bustamante, Mario; Lay-Son, Guillermo; Ojeda, José Manuel; Reyes, José M.; Blanco, Rafael

doi:10.4067/s0716-97602004000300011

Cited by 9 publications

(5 citation statements)

References 39 publications

(27 reference statements)

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“…This mutation is known to be one of the three most prevalent mutations in the Ashkenazi Jewish population (38, 40), but is also reportedly the most frequent mutation in several Hispanic populations including Hispanics from California (34) and Texas (33). It was also observed in Chilean (55, 56), but not in Colombian (57) or Mexican (58) BRCA carriers. Its origin in the Hispanic population may be traced back to Spain as it was also detected in non-Jewish families from Spain.…”

Section: Discussionmentioning

confidence: 91%

Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico

et al. 2012

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Mutations in the breast cancer 1, early onset (BRCA1) and breast cancer 2 (BRCA2) genes are responsible for the majority of hereditary breast cancers. Knowledge of the incidence and prevalence of BRCA mutations in a specific population or ethnic group is necessary to provide accurate genetic counseling for breast cancer patients and their families. However, these data have not been gathered in the population of Puerto Rico. We conducted a retrospective study of female breast cancer patients undergoing genetic testing for BRCA mutations in the highest volume breast surgery practices in San Juan, Puerto Rico. Data collection includes 3-generation family cancer history and results from complete BRCA sequencing. A total of 6 different deleterious mutations were observed, including 1 mutation in BRCA1 and 5 mutations in BRCA2. Three recurrent mutations (BRCA1 del exon1–2, BRCA2 4150G>T, and BRCA2 6027del4) account for over 70% of all the BRCA mutations observed in this study population. This study examines for the first time the characteristics of hereditary breast cancer in Puerto Rico, and assesses the accuracy of existing genetic risk assessment tools in that population. This data is expected to contribute to providing accurate and efficient tools for the clinical management of hereditary breast cancer in Puerto Rico.

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Section: Discussionmentioning

confidence: 91%

Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico

et al. 2012

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“…Two mutations were observed in two unrelated probands each: BRCA1 c.187_188delAG (formerly known as 185delAG) and a novel mutation in BRCA1 , c.4185_4188delCAAG (Jara et al , 2004, 2006). Previously, the prevalence of the supposed Ashkenazi founder mutations was found to be low in 382 Chilean breast cancer families; BRCA1 185delAG was present in 0.26%, whereas the BRCA1 5382insC and BRCA2 6174delT mutations were not identified (Jara et al , 2002a,b).…”

Section: Resultsmentioning

confidence: 99%

Prevalence and impact of founder mutations in hereditary breast cancer in Latin America

Ashton‐Prolla

Vargas

2014

Genet. Mol. Biol.

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Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain populations. In some Latin American countries, founder mutations associated with increased risk of breast and other cancers have been described. This is particularly interesting considering that in most of these countries, populations are highly admixed with genetic contributions from native populations and from the in-flux of several distinct populations of immigrants. In this article, we present a review of the scientific literature on the subject and describe current data available on founder mutations described in the most common breast cancer predisposition genes: BRCA1, BRCA2 and TP53.

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“…Although a few studies in Hispanic families from Chile [24,25], Mexico [26] and Southern California [1] have previously been conducted, this is, to our knowledge, the first comprehensive study of the Hispanic population from Colombia. In our study, 13 deleterious BRCA1 and BRCA2 mutations were identified.…”

Section: Discussionmentioning

confidence: 95%

High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia

Torres

Rashid

Gil

et al. 2006

Breast Cancer Res Treat

106

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In South America, a high proportion of the population is of Hispanic origin with an important representation in Colombia. Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. Comprehensive BRCA mutation screening was performed using a range of techniques, including DHPLC, SSCP, and PTT, followed by DNA sequencing analysis. Thirteen deleterious germline mutations (24.5%) were identified in 53 families, comprising eight in BRCA1 and five in BRCA2. The two recurrent BRCA1 mutations, 3450 delCAAG and A1708E, accounted for 100% of all BRCA1 mutations identified in this cohort and the recurrent 3034 delACAA BRCA2 mutation for 40% of all BRCA2 mutations. Haplotype analyses suggested that each of these mutations has arisen from a common ancestor. The prevalence of BRCA1 or BRCA2 mutations was 50% in multiple case breast cancer families, and was 33% for the breast-ovarian cancer families. Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia. The spectrum of mutations differed completely to that previously reported in Hispanic families of predominantly Mexican origin from Southern California [1] suggesting that specific genetic risk assessment strategies for the different Hispanic populations in South America and in the United States need to be developed.

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Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families

Cited by 9 publications

References 39 publications

Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico

Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico

Prevalence and impact of founder mutations in hereditary breast cancer in Latin America

High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia

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