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

Ashton‐Prolla, Patrícia; Vargas, Fernando

doi:10.1590/s1415-47572014000200009

Cited by 34 publications

(32 citation statements)

References 50 publications

(56 reference statements)

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“…The clinical presentation of HBOC among Hispanic subpopulations is very similar to non-Hispanic cohorts [12, 17, 19, 21, 25, 36–40]. Most studies reported that the majority of women that met inclusion criteria had BC diagnosed before age 50 (67.5%; range: 50.4–81.4%).…”

Section: Introductionmentioning

confidence: 87%

“…The majority of the studies reporting the prevalence of BRCA mutations in Hispanics have been performed on heterogeneous groups of Hispanic women from different countries, including: Mexico [9–11], Brazil [12–14], Costa Rica [15], Chile [16, 17], Argentina [18], Peru [19], Colombia [20, 21], Venezuela [22], Bahamas [23], Cuba [24], and Puerto Rico [25] (Table 1). Recently, BRCA mutations in Latin American countries was published, which detailed the mutations found and how the prevalence changed from country to country [26].…”

Section: Introductionmentioning

confidence: 99%

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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Cruz‐Correa

Pérez-Mayoral

Dutil

et al. 2017

Hered Cancer Clin Pract

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Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers. Furthermore, the productivity loss that occurs after cancer diagnosis in these high-risk patients has a negative socio-economic impact. This review summarizes the genetic basis, phenotype characteristics, and the National Comprehensive Cancer Network’s screening, testing, and surveillance guidelines for the leading hereditary cancer syndromes. The aim of this review is to promote a better understanding of cancer genetics and genetic testing in Hispanic patients.

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Section: Introductionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Cruz‐Correa

Pérez-Mayoral

Dutil

et al. 2017

Hered Cancer Clin Pract

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“…Founder pathogenic variants in CRC predisposition genes appear to be less well studied when compared to breast cancer in several Latin American populations . We recently identified 16 internationally well‐known founder MMR variants in Brazil, Colombia, Argentina, Uruguay and Chile .…”

Section: Genetic Profile For Hereditary Crc: Lynch Syndromementioning

confidence: 99%

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

Vaccaro

López-Köstner

Adriana

et al. 2018

Intl Journal of Cancer

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Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%–80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency.

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“…However, there are other mutations that are frequent in Latin America and uncommon in other populations, such as BRCA1 A1708E (10). Founder mutations have also been reported in Mexico ( BRCA1 ex9-12del) (28); in Colombia ( BRCA1 3450del4, A17082 and BRCA2 3034del4) (29, 30); and in Brazil ( BRCA1 5382insC and BRCA2 c.156_157insAlu) (31, 32). Although the majority of BRCA mutations consist of single base changes or deletions/insertions of small numbers of bases, large rearrangements of DNA segments have been reported twice as frequently in the Latin American populations.…”

Section: Introductionmentioning

confidence: 96%

“…The prevalence of other highly penetrant hereditary breast cancer genes, such as PTEN (Cowden’s Syndrome), TP53 (Li-Fraumeni syndrome), STK11 (Peutz-Jeghers syndrome) and CDH1 (Hereditary diffuse gastric cancer) is largely unknown in Latin America (32). An exception to this is the finding of the TP53 R337H founder mutation in Brazil.…”

Section: Introductionmentioning

confidence: 99%

Genetic Cancer Risk Assessment for Breast Cancer in Latin America

Chávarri‐Guerra

Blazer

Weitzel

2017

RIC

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In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped across Latin America, and access to genetic testing and counseling is very scarce in the region. Barriers contributing to the access to genetic care are high cost and lack of insurance coverage for genetic tests, insufficient oncogenetics training or expertise, nonexistence of genetic counseling as a clinical discipline, and lack of supportive healthcare policies. In this review, we highlight relevant initiatives undertaken in several Latin American countries aimed at creating genetic cancer risk assessment programs. Additionally, we present a review of the scientific literature on the current status of breast cancer genomics in Latin America, with specific emphasis on demographic indicators, access to cancer genetic care, training and strategies to improve outcomes, and international collaborations. (Rev Inves ClIn. 2017;69:94-102)

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

Cited by 34 publications

References 50 publications

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

Genetic Cancer Risk Assessment for Breast Cancer in Latin America

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