Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families

Abstract

Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles. The prevalence of BRCA mutations among high-risk Hispanic families is unknown. Methods: One hundred and ten unrelated probands of Hispanic origin, with a personal or family history of breast and/ or ovarian cancer, presented for genetic cancer risk assessment, were enrolled in an Institutional Review Board -approved registry and underwent BRCA testing. Haplotype analyses were done if BRCA mutations were observed in two or more unrelated probands. Results: Mean age at diagnosis was 37 years (range = 23-59) for the 89 (81%) probands with invasive breast cancer. Overall, 34 (30.9%) had deleterious mutations (25 in BRCA1, 9 in BRCA2), 25 (22.7%) had one or more unclassified variants, and 51 (46.4%) had negative results. The mean pretest mutation probability using the Couch model, Myriad model, and BRCAPro was 19.6% (range = 4-

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

“…The Oncologist ® 836 BRCA1 and BRCA2 Mutations in Latin America populations, where the initial analysis of these genes focuses on the most recurrent mutations [54]. The complete evaluation of BRCA1 and BRCA2 is necessary only in cases where there is strong family history and none of the corresponding founder mutations is identified.…”

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

“…A bilingual cancer risk counselor conducted GCRA sessions for Spanish-speaking patients, or translation services were provided, with adapted counseling aides and Spanish consent forms. 22,23 Malaysia. Patients were recruited as part of a study into the genetic factors of breast cancer in Malaysia's multiethnic population, using previously described identification and recruitment schemes that were ethically approved.…”

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

“…Several recent studies have documented the presence of BRCA mutations in Hispanic women (Mullineaux et al 2003;Weitzel et al 2005Weitzel et al , 2007. A population-based study from the Northern California Cancer Registry reported that Hispanic women with a personal history of breast cancer have the highest prevalence of BRCA1 mutations compared to other racial/ethnic minority groups (i.e., African American, Asian American) in the USA (John et al 2007).…”

“…A population-based study from the Northern California Cancer Registry reported that Hispanic women with a personal history of breast cancer have the highest prevalence of BRCA1 mutations compared to other racial/ethnic minority groups (i.e., African American, Asian American) in the USA (John et al 2007). However, existing studies in the USA documenting BRCA mutation prevalence in Hispanic populations were based on participants that were predominantly of Mexican origin (Mullineaux et al 2003;Weitzel et al 2005Weitzel et al , 2007.…”