A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer
Studies continue to uncover contributing risk factors for breast cancer (BC) development
including genetic variants. Advances in machine learning and big data generated from …
including genetic variants. Advances in machine learning and big data generated from …
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
RSC Guindalini, DV Viana, JPFW Kitajima… - Scientific reports, 2022 - nature.com
Genetic diversity of germline variants in breast cancer (BC) predisposition genes is
unexplored in miscegenated populations, such those living in Latin America. We evaluated …
unexplored in miscegenated populations, such those living in Latin America. We evaluated …
Cancer predisposition genes in adolescents and young adults (AYAs): a review paper from the Italian AYA working group
A Toss, P Quarello, M Mascarin, GL Banna… - Current Oncology …, 2022 - Springer
Abstract Purpose of Review The present narrative systematic review summarizes current
knowledge on germline gene mutations predisposing to solid tumors in adolescents and …
knowledge on germline gene mutations predisposing to solid tumors in adolescents and …
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients
A Al Saati, P Vande Perre, J Plenecassagnes… - International Journal of …, 2023 - mdpi.com
Even though male breast cancer (MBC) risk encompasses both genetic and environmental
aetiologies, the primary risk factor is a germline pathogenic variant (PV) or likely pathogenic …
aetiologies, the primary risk factor is a germline pathogenic variant (PV) or likely pathogenic …
The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer
The breast cancer type 1 susceptibility protein (BRCA1) and its partner–the BRCA1-
associated RING domain protein 1 (BARD1)–are key players in a plethora of fundamental …
associated RING domain protein 1 (BARD1)–are key players in a plethora of fundamental …
[HTML][HTML] Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco
A Laraqui, M Cavaillé, N Uhrhammer, O ElBiad… - Journal of …, 2021 - ncbi.nlm.nih.gov
Pathogenic variants (PVs) in BRCA genes have been mainly associated with an increasing
risk of triple negative breast cancer (TNBC). The contribution of PVs in non-BRCA genes to …
risk of triple negative breast cancer (TNBC). The contribution of PVs in non-BRCA genes to …
A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility
EM Marchena-Perea, ME Salazar-Hidalgo… - Cancers, 2022 - mdpi.com
Simple Summary Around 50% of the familial breast cancer (BC) cases are estimated to be
caused by variants in low-, moderate-, and high-risk susceptibility genes; however, the other …
caused by variants in low-, moderate-, and high-risk susceptibility genes; however, the other …
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome …
S Carrera, AB Rodríguez-Martínez, I Garin… - Hereditary Cancer in …, 2023 - Springer
Background Colorectal cancer (CRC) is a highly prevalent disease in developed countries.
Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch …
Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch …
Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants
B Benito-Sánchez, A Barroso, V Fernández… - Scientific Reports, 2022 - nature.com
Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian
cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk …
cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk …
Criterios para la identificación de síndromes de cáncer de mama hereditarios. Revisión de la literatura y recomendaciones para el Instituto Nacional de Cancerología …
MCS Salas, AMP Duran, AL Rivera… - Revista Colombiana …, 2023 - revistacancercol.org
Introducción. Los síndromes de cáncer de mama hereditario (SCMH) corresponden a un 5%
a 10% de todos los casos de la enfermedad, en su mayoría explicados por mutaciones en …
a 10% de todos los casos de la enfermedad, en su mayoría explicados por mutaciones en …