Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer
B Speight, E Colvin, ED Epurescu, J Drummond… - Hereditary cancer in …, 2022 - Springer
Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian
cancer. The vast majority of these variants are inherited from a parent. De novo …
cancer. The vast majority of these variants are inherited from a parent. De novo …
Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2
I Hidalgo Mayoral, A Almeida Santiago… - Genes, 2023 - mdpi.com
Hereditary breast and ovarian cancer syndrome (HBOC) is a clinical entity characterized by
an increased risk of developing breast and ovarian cancer. The genetic diagnosis is based …
an increased risk of developing breast and ovarian cancer. The genetic diagnosis is based …
[HTML][HTML] Constitutional mosaicism: a critical issue in the definition of BRCA-inherited cancer risk
E Tenedini, S Piana, A Toss, M Marino… - JCO Precision …, 2022 - ncbi.nlm.nih.gov
In ovarian cancer, BRCA tests have a well-recognized dual role in defining hereditary
cancer predisposition and predicting response to treatment. 1-4 The implementation of …
cancer predisposition and predicting response to treatment. 1-4 The implementation of …
Clinically relevant low-frequency Next Generation Sequencing variants in hereditary cancer patients: an operational multi-step algorithm for laboratory managing.
E Tenedini, L Bonamici, M Marino, L Artuso… - Biochimica …, 2023 - search.ebscohost.com
The improved sensitivity of Next Generation Sequencing (NGS), in comparison to Sanger
sequencing, results in increased identification of unusual findings. Typically, heterozygous …
sequencing, results in increased identification of unusual findings. Typically, heterozygous …
BRCA1/2 patogén és ismeretlen klinikai szignifikanciájú variánsok azonosítása és vizsgálati lehetőségei
G Alexandra - 2022 - search.proquest.com
A daganatos megbetegedések világszerte a vezető halálokok közé tartoznak. A rákos
elváltozások genetikai eredetű betegségek, amelyeket az ezekre hajlamosító gének …
elváltozások genetikai eredetű betegségek, amelyeket az ezekre hajlamosító gének …