• Jones, Catherine
• Paredes, Jesica M. Godinez
• Orozco, Anali
• Ortiz, Jeremy
• Luo, Wen
• Ren, Megan
• Nahleh, Zeina
• Barreda, Lilian
• Albanez, Anaseidy
• Argueta, Victor
• Liu, Jia
• Orozco, Roberto
• Rodriguez, Isabel
• Garland, Lisa
• Gharzouzi, Eduardo
• Torres-Gonzalez, Edmundo
• Wu, Dongjing

Abstract

<jats:title>Abstract</jats:title><jats:sec><jats:title>Purpose</jats:title><jats:p>Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala.</jats:p><jats:p>Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were <jats:italic>BRCA1</jats:italic>, <jats:italic>BRCA2</jats:italic>, <jats:italic>CHEK2</jats:italic>, and <jats:italic>ATM</jats:italic>. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic <jats:italic>variants</jats:italic> (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (<jats:italic>p</jats:italic> &lt; 0.001).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women.</jats:p></jats:sec>

Topics

• size-exclusion chromatography
• susceptibility