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

CA Ossa, D Torres - The oncologist, 2016 - academic.oup.com
Background. Numerous epidemiological factors affect the probability of develo** breast or
ovarian cancer, but no predictor is as determinant as inheriting a mutation in BRCA1 or …

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

TR Rebbeck, TM Friebel, E Friedman… - Human …, 2018 - Wiley Online Library
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been
reported in single populations, with the majority of reports focused on White in Europe and …

Genetic epidemiology of breast cancer in Latin America

VA Zavala, SJ Serrano-Gomez, J Dutil, L Fejerman - Genes, 2019 - mdpi.com
The last 10 years witnessed an acceleration of our understanding of what genetic factors
underpin the risk of breast cancer. Rare high-and moderate-penetrance variants such as …

Germline variation in BRCA1/2 is highly ethnic‐specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients

SP Bhaskaran, K Chandratre, H Gupta… - … journal of cancer, 2019 - Wiley Online Library
BRCA1 and BRCA2 play essential roles in maintaining the genome stability. Pathogenic
germline mutations in these two genes disrupt their function, lead to genome instability and …

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients

B Crawford, SB Adams, T Sittler… - Breast cancer research …, 2017 - Springer
Purpose Many women with an elevated risk of hereditary breast and ovarian cancer have
previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a …

[HTML][HTML] Female breast cancer in Central and South America

A Di Sibio, G Abriata, D Forman, MS Sierra - Cancer Epidemiology, 2016 - Elsevier
Rationale and objective The burden of breast cancer has increased worldwide. Breast
cancer mortality has been increasing in Central and South America (CSA) in the last few …

Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA‐negative Hispanics with …

JN Weitzel, SL Neuhausen, A Adamson, S Tao… - Cancer, 2019 - Wiley Online Library
Background Breast cancer (BC) is the most common cancer and related cause of mortality
among Hispanics, yet susceptibility has been understudied. BRCA1 and BRCA2 (BRCA) …

The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer

C Villarreal-Garza, JN Weitzel, M Llacuachaqui… - Breast cancer research …, 2015 - Springer
Various guidelines recommend that women with triple-negative breast cancer should be
tested for BRCA1 mutations, but the prevalence of mutations may vary with ethnic group and …

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective

J Dutil, VA Golubeva, AL Pacheco-Torres… - Breast Cancer Research …, 2015 - Springer
Hereditary cancer predisposition gene testing allows the identification of individuals at high
risk of cancer that may benefit from increased surveillance, chemoprevention, and …

Germline pathogenic variant prevalence among Latin American and US Hispanic individuals undergoing testing for hereditary breast and ovarian cancer: a cross …

CA Ossa Gomez, MI Achatz, M Hurtado… - JCO Global …, 2022 - ascopubs.org
PURPOSE To report on pathogenic germline variants detected among individuals
undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin …