title: Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.
abstract: Hispanics in El Paso, TX, a large American-Mexican border city constitute 85% of the population. Limited cancer research has been conducted in this population. We sought to study the prevalence of BRCA mutations among Hispanic patients of Mexican origin, identify reported Mexican founder or recurrent mutations, and study the breast cancer characteristics in mutation carriers.
  
  
  METHODS
  Hispanic women of Mexican descent with a personal history of breast cancer, who presented consecutively for genetic cancer risk assessment, were enrolled in an Institutional Review Board-approved registry and underwent BRCA testing based on national guidelines. The characteristics of tumors and patients with positive BRCA mutation were analyzed.
  
  
  RESULTS
  88 patients were screened; 18 patients (20%) were BRCA carriers. Among BRCA carriers, 72% were diagnosed with breast cancer at younger than 50 years, 61% had "Triple negative disease". BRCA carriers had a significantly higher Body Mass Index (BMI) than non-carriers. Thirteen patients had BRCA1 mutations and five had BRCA2 mutations. A total of 17 deleterious BRCA Mutations were observed. Seven have been previously reported as specific genes from Mexico as country of origin. Five new mutations in BRCA carriers of Mexican descent were identified.
  
  
  CONCLUSIONS
  Hispanic breast cancer patients of Mexican origin present at a younger age, and have predominantly triple negative tumors and high BMI. We identified 5 new mutations not reported previously in Hispanic BRCA carriers of Mexican descent. Interestingly, 41% of BRCA mutations identified have been reported as recurrent mutations in Hispanic individuals from Mexico as the country of origin. A more cost-effective approach to initial screening of Hispanic individuals based on country of origin is desirable and would potentially decrease the number of cases requiring complete sequencing.
authors: Department of Internal Medicine, Division of Hematology and Oncology, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Zeina
authors: Z
authors: Nahleh
authors: Department of Internal Medicine, Division of Hematology and Oncology, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Salman
authors: S
authors: Otoukesh
authors: Department of Biomedical Sciences, Division of Epidemiology and Biostatics, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Alok Kumar
authors: AK
authors: Dwivedi
authors: Department of Biomedical Sciences, Division of Epidemiology and Biostatics, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Indika
authors: I
authors: Mallawaarachchi
authors: Department of Internal Medicine, Division of Hematology and Oncology, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Luis
authors: L
authors: Sanchez
authors: Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: J Salvador
authors: JS
authors: Saldivar
authors: Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Kayla
authors: K
authors: Cataneda
authors: Department of Internal Medicine, Division of Hematology and Oncology, Texas Tech University Health Sciences Center El Paso, TX, USA.
authors: Rosalinda
authors: R
authors: Heydarian
keywords: BRCA1; BRCA2; HER2; estrogen receptor; hispanic; progesterone receptor
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