DNA-Damage-Repair gene alterations in genitourinary malignancies
C Dariane, MO Timsit - European Surgical Research, 2023 - karger.com
Background: High-fidelity repair of DNA damage repair (DDR)(either single-strand-[SSBs] or
double-strand breaks [DSBs]) is necessary for maintaining genomic integrity and cell …
double-strand breaks [DSBs]) is necessary for maintaining genomic integrity and cell …
Differences in cancer phenotypes among frequent CHEK2 variants and implications for clinical care—checking CHEK2
BL Bychkovsky, NB Agaoglu, C Horton, J Zhou… - Jama …, 2022 - jamanetwork.com
Importance GermlineCHEK2pathogenic variants (PVs) are frequently detected by multigene
cancer panel testing (MGPT), but our understanding of PVs beyond c. 1100del has been …
cancer panel testing (MGPT), but our understanding of PVs beyond c. 1100del has been …
Biological and clinical implications of early-onset cancers: a unique subtype
In recent years, the incidence of cancers is continuously increasing in young adults. Early-
onset cancer (EOC) is usually defined as patients with cancers under the age of 50, and may …
onset cancer (EOC) is usually defined as patients with cancers under the age of 50, and may …
Cytoreductive surgery, systemic treatment, genetic evaluation, and patient perspective in a young adult with metastatic renal cell carcinoma
EH Nicaise, A Yildirim, S Sheth… - CA: A Cancer …, 2024 - Wiley Online Library
A man aged 41 years who had a past medical history significant for bilateral lower extremity
varicosities and a prior 20‐pack‐year smoking history reported several days of fatigue to his …
varicosities and a prior 20‐pack‐year smoking history reported several days of fatigue to his …
Cancer risks for other sites in addition to breast in CHEK2 c. 1100delC families
MAC Schreurs, MK Schmidt, A Hollestelle… - Genetics in …, 2024 - Elsevier
Abstract Purpose Female CHEK2 c. 1100delC heterozygotes are eligible for additional
breast surveillance because of an increased breast cancer risk. Increased risks for other …
breast surveillance because of an increased breast cancer risk. Increased risks for other …
Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer
NA Borja, R Silva-Smith, M Huang, DJ Parekh… - Frontiers in …, 2023 - frontiersin.org
Heterozygous, loss-of-function germline variants in ATM have been associated with an
increased lifetime risk of breast, pancreas, prostate, stomach, ovarian, colorectal, and …
increased lifetime risk of breast, pancreas, prostate, stomach, ovarian, colorectal, and …
Pathogenic Germline Mutational Landscape in Patients With Renal Cell Carcinoma and Associated Clinicopathologic Features
CB Nguyen, C Knaus, J Li, ML Accardo… - JCO Precision …, 2023 - ascopubs.org
PURPOSE A subset of renal cell carcinoma (RCC) cases occur because of a hereditary
predisposition. However, the prevalence and profiling of germline alterations in RCC have …
predisposition. However, the prevalence and profiling of germline alterations in RCC have …
[HTML][HTML] Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma
Background and objective Previous germline studies on renal cell carcinoma (RCC) have
usually pooled clear and non–clear cell RCCs and have not adequately accounted for …
usually pooled clear and non–clear cell RCCs and have not adequately accounted for …
Hereditary Renal Cancer Syndromes
GA Yanus, ES Kuligina, EN Imyanitov - Medical Sciences, 2024 - mdpi.com
Familial kidney tumors represent a rare variety of hereditary cancer syndromes, although
systematic gene sequencing studies revealed that as many as 5% of renal cell carcinomas …
systematic gene sequencing studies revealed that as many as 5% of renal cell carcinomas …
[HTML][HTML] Genetic study of the CDKN2A and CDKN2B genes in renal cell carcinoma patients
N Kiatprungvech, P Sangkum, R Malinee… - Practical Laboratory …, 2024 - Elsevier
Objectives While recent studies have demonstrated several genetic alterations are
associated with pathogenesis of RCC, the significance of cyclin-dependent kinase inhibitor …
associated with pathogenesis of RCC, the significance of cyclin-dependent kinase inhibitor …