[HTML][HTML] Challenges of diagnostic genomics in Latin America

RM Alvarez-Gomez… - Current Opinion in …, 2021 - Elsevier
Cancer genome sequencing methods have now become essential for diagnostic purposes,
for devising treatment strategies, and for monitoring disease regression and progression …

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Y Zhang, H Wu, Z Yu, L Li, J Zhang, X Liang, Q Huang - BMC cancer, 2022 - Springer
Objective To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in
Chinese Hakka patients with breast and ovarian cancer. Methods A total of 1,664 breast or …

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily

S Stella, SR Vitale, F Martorana… - Cancer management …, 2022 - Taylor & Francis
Purpose Germline mutations of BRCA1 and BRCA2 are associated with a defined lifetime
risk of breast (BC), ovarian (OC) and other cancers. Testing BRCA genes is pivotal to assess …

Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico

CE Díaz-Velásquez, R Gitler, A Antoniano… - Frontiers in …, 2023 - frontiersin.org
Background: Individuals of Ashkenazi Jewish ancestry have been identified as having
higher prevalence of specific pathogenic variants associated with susceptibility to specific …

A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia

A Kechin, U Boyarskikh, A Barinov, A Tanas… - Breast Cancer Research …, 2023 - Springer
Abstract Purpose Pathogenic variants (PVs) in BRCA1 and BRCA2 genes are essential
biomarkers of an increased breast and ovarian cancer risk and tumor sensitivity to poly ADP …

A Molecular Characterization of the Allelic Expression of the BRCA1 Founder Δ9–12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer

J Dominguez-Ortiz, RM Álvarez-Gómez… - International Journal of …, 2024 - mdpi.com
Hereditary breast and ovarian cancer (HBOC) syndrome is a genetic condition that
increases the risk of breast cancer by 80% and that of ovarian cancer by 40%. The most …

BRCA 基因与卵巢癌诊治相关的研究进展.

陈振波, 孟元光 - Journal of International Obstetrics & …, 2021 - search.ebscohost.com
卵巢癌是威胁女性生命健康最常见的恶性肿瘤之一, 死亡率居妇科肿瘤之首.
乳腺癌易感基因(breast cancer susceptibility gene, BRCA) 是重要的肿瘤遗传易感基因 …

The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population

Y Luo, H Wu, Q Huang, H Rao, Z Yu… - International Journal of …, 2022 - Taylor & Francis
Objective To investigate the frequencies of BRCA1 and BRCA2 mutations in Chinese Hakka
patients with ovarian cancer. Methods The protein coding regions and exon intron boundary …

[HTML][HTML] Características clínicas de pacientes con Cáncer de Mama y/o Cáncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en Córdoba, Argentina

CA Martin, LS Villasmil, A Sembaj… - Revista de la …, 2022 - ncbi.nlm.nih.gov
Objetivos: Describir características clínicas, histopatológicas y VP en pacientes con HBOC
en Córdoba, Argentina y compararla con aquellas sin mutaciones en BRCA1/2. Métodos …

Clinical characteristics of patients with Breast and/or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina

CA Martin, S Villasmil, A Sembaj… - Revista de la …, 2022 - europepmc.org
Objectives To describe clinical, histopathological and PV characteristics in patients with
HBOC in Córdoba, Argentina and compare it with those without BRCA1/2 mutations …