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ISSN 0185-3252 (Print)
Revista de la Asociación Médica del Centro Médico ABC

2021, Number 4

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An Med Asoc Med Hosp ABC 2021; 66 (4)

Prevalence of BRCA germinal mutation among young women with breast cancer: experience in a Third Level Private Center

Vázquez JD, Serrano OJA, Noguez RA, Porras GR, Lázaro LJM, Olivares BG, Gerson CR

Language: Spanish
References: 24
Page: 249-257
PDF size: 306.58 Kb.


ABSTRACT

Introduction: Breast cancer in young women has a behavior and biology associated with an increased risk of recurrence and death. The diagnosis of breast cancer in young women is strongly associated with the presence of genetic mutations, mainly in the BRCA gene. However, an association between the presence of inherited genetic mutations and prognosis has not been observed. Objective: To describe the prevalence and analyze the clinical-pathological characteristics of women, < 50 years with breast cancer, with and without BRCA germline gene mutation. Material and methods: A descriptive, observational, cross-sectional study of women < 50 years with BC with and without BRCA germline mutation who received treatment at a Private Third Level Medical Center. Results: 53 women with BC < 50 years and a genetic panel result were identified. Median age was 40 years (27-50), 55% < 40 years old. 30/53 women (56.6%), presented some mutation in the genetic panel. BRCA1 and/or BRCA2 9/30 (30%) mutation, all of them were pathogenic variants. Mutations other than BRCA in 21/30 (70%), of these 7/21 (33.3%) pathogenic mutations in the ATM (2), MUTYH (2), TP53 (2) and PALB2 (1) genes. In 14/21 (66.7%) variants of uncertain significance were identified. We did not observe an association between the clinicopathological characteristics and the BRCA mutational status or other genetic mutations, except for the high degree of differentiation (p = 0.04), being more frequent in the mutated group. There were no differences in disease-free time between BRCA mutated and non-mutated patients (p = 0.12). Conclusions: The prevalence of the BRCA germline mutation in women with breast cancer < 50 years in our population was 30%. The clinical and biological characteristics and the disease-free time were not different among the group with and without BRCA germline mutation, or other genes.


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