Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and lynch syndromes: a consequence of multigene panel genetic testing?
M Infante, M Arranz-Ledo, E Lastra, LE Abella… - International Journal of …, 2022 - mdpi.com
The probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing
genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is …
genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is …
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants
E Bueno-Martínez, L Sanoguera-Miralles… - Cancers, 2021 - mdpi.com
Simple Summary In the BRIDGES project, the breast/ovarian cancer gene RAD51D has
been sequenced in> 113,000 women. In the present study, we focused on the impact that 11 …
been sequenced in> 113,000 women. In the present study, we focused on the impact that 11 …
Prevalence of germline variants in Brazilian pancreatic carcinoma patients
LM Rodrigues, S Maistro, MLH Katayama… - Scientific Reports, 2024 - nature.com
We evaluated the prevalence of pathogenic/likely pathogenic germline variants (PGV) in
Brazilian pancreatic adenocarcinoma (PC) patients, that represent a multiethnic population …
Brazilian pancreatic adenocarcinoma (PC) patients, that represent a multiethnic population …
ATM c. 7570G> C is a high‐risk allele for breast cancer
M Kankuri‐Tammilehto, A Tervasmäki… - … Journal of Cancer, 2023 - Wiley Online Library
ATM is generally described as a moderate‐risk breast cancer susceptibility gene. However,
some of ATM variants might encounter higher risk. ATM c. 7570G> C, p. Ala2524Pro …
some of ATM variants might encounter higher risk. ATM c. 7570G> C, p. Ala2524Pro …
Using co-segregation and loss of heterozygosity analysis to define the pathogenicity of unclassified variants in hereditary breast cancer patients
RS Grasel, PS Felicio, AE De Paula… - Frontiers in …, 2020 - frontiersin.org
The use of gene panels introduces a new dilemma in the genetics field due to the high
frequency of variants of uncertain significance (VUS). The objective of this study was to …
frequency of variants of uncertain significance (VUS). The objective of this study was to …
[HTML][HTML] Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families
Background: RAD51C and RAD51D are crucial in homologous recombination (HR) DNA
repair. The prevalence of the RAD51C and RAD51D mutations in breast cancer varies …
repair. The prevalence of the RAD51C and RAD51D mutations in breast cancer varies …
[PDF][PDF] FACULDADE DE MEDICINA
LM RODRIGUES - 2024 - teses.usp.br
Nome: RODRIGUES, Lívia Munhoz Título: Determinação do espectro e frequência de
mutações germinativas em genes de predisposição ao câncer em pacientes com câncer de …
mutações germinativas em genes de predisposição ao câncer em pacientes com câncer de …
[PDF][PDF] Valenzuela-Palomo
E Bueno-Martinez… - … , Car alho, S …, 2021 - scholarlypublications …
RAD51D loss-of-function variants increase lifetime risk of breast and ovarian cancer.
Splicing disruption is a frequent pathogenic mechanism associated with variants in …
Splicing disruption is a frequent pathogenic mechanism associated with variants in …