BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

Solano, Angela; Aceto, Gitana María; Delettieres, Dreanina; Veschi, Serena; Neuman, Maria Isabel; Alonso, Eduardo Torres; Chialina, Sergio; Chacón, Reinaldo; Mariani-Costantini, Renato; Podestá, Ernesto J.

doi:10.1186/2193-1801-1-20

Cited by 57 publications

(63 citation statements)

References 51 publications

(49 reference statements)

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“…They did not find the highest frequency of large rearrangements (0.54 vs 11%) nor the Mexican founder BRCA1 ex9-12del previously described [33,39]. A previous study by Solano et al reported results of BRCA analysis (analyzed for the three Ashkenazi mutations: BRCA1 c.66 67delAG, BRCA1 c.5263insC and BRCA2 c.5946delT) in 40 Ashkenazi group with affected relatives (17 cases, 42.5%) [69].…”

Section: Clinicomolecular Features Of Hostmentioning

confidence: 95%

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

Castañeda

Castillo

Villarreal‐Garza

et al. 2018

Breast Cancer Manag.

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Practice pointsr Latinas with breast cancer have been associated with lower prevalence and higher mortality rates. r The access to healthcare system for Latinas has been described as lower than for white women. r Rates of grade III and triple-negative phenotype breast cancer are higher for Latinas than for white women. r BRCA mutation prevalence appears to be higher in Latinas than white women in the American population. r Distribution of BRCA mutation differs by country in Central, Latin America or Caribbean and recurrent mutations have been described in Mexico. r Finally, evaluated information about treatment efficacy and toxicity in Latinas with breast cancer indicate similar effects than in the white race.Breast cancer is a heterogeneous and genetic disease that has variability according to ethnicity and race with respect to incidence, clinical characteristics and prognosis. The incidence of breast cancer is lower but mortality is higher in Latinas than Caucasians in the US series. Risk factors appear to have different prevalence and impact in Latinas. Breast cancer in Latinas has particular clinic-pathological features including younger age, higher rates of triple-negative subtype and advanced stages. Molecular studies find that Latinas from every region have a specific BRCA incidence and a recurrent mutation, as well as differences in activity of molecular pathways. Treatment response rates and toxicity have also been compared, and no difference was found between Latinas and other ethnic groups.

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Section: Clinicomolecular Features Of Hostmentioning

confidence: 95%

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

Castañeda

Castillo

Villarreal‐Garza

et al. 2018

Breast Cancer Manag.

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“…Solano et al [11] performed a sequencing analysis in 134 patients with breast and ovarian cancer, selected by diagnosis age or family history.The study included 40 Ashkenazi Jews who were analyzed only for the three founder mutations characteristic of this population (c.66_67delAG and c.5263insC in BRCA1 and c.5946delT in BRCA2), observing a high recurrence of these mutations, with a mutation frequency of 42.5% (17/40). The most recurrent founder mutation was BRCA2 6174delT (8/17), followed by BRCA1 185delAG (7/17).…”

Section: Argentinamentioning

confidence: 99%

Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review

Ossa

Torres

2016

The Oncologist

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Background. Numerous epidemiological factors affect the probability of developing breast or ovarian cancer, but no predictor is as determinant as inheriting a mutation in BRCA1 or BRCA2. The concept of the founder effect explains the reduced genetic variability in some populations, according to the theory that new populations can be formed from a reduced number of individuals, so the new population would carry only a small fraction of the genetic variability of the original population. The main purpose of this review is to provide an update on the state of the art in founder mutations and some recurrent mutations that have recently been described in Latin America. Methods. A literature search was performed in the electronic databases of PUBMED, EMBASE, LILACS, and BIREME using the terms BRCA1, BRCA2, founder mutation, Latin American population, and Hispanic. Sixty-two papers were identified, of which 38 were considered relevant for this review. Each result is shown per country. Results. In Latin America, clear founder effects have been reported in Mexico (BRCA1 del exons 9-12), Brazil (BRCA1 5382insC and BRCA2 c.156_157insAlu), and Colombia (BRCA1 3450del4, A1708E, and BRCA2 3034del4) and in Latinas residing

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“…Breast-ovarian cancer (BOC)-causing mutations and other genetic variants are distributed along the entire coding and non-coding regions of BRCA1 and BRCA2, and more than 3400 gene variants have been described in the Breast Cancer Information Core (Solano et al, 2012). New variants continue to be detected worldwide, mostly in BRCA1.…”

Section: Introductionmentioning

confidence: 99%