Contralateral breast cancer risk among carriers of germline pathogenic variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2

S Yadav, NJ Boddicker, J Na, EC Polley… - Journal of Clinical …, 2023 - ingentaconnect.com
PURPOSE To estimate the risk of contralateral breast cancer (CBC) among women with
germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 …

[HTML][HTML] Biological Basis of Breast Cancer-Related Disparities in Precision Oncology Era

AN Neagu, P Bruno, KR Johnson, G Ballestas… - International Journal of …, 2024 - mdpi.com
Precision oncology is based on deep knowledge of the molecular profile of tumors, allowing
for more accurate and personalized therapy for specific groups of patients who are different …

Disparities in genetic testing for heritable solid-tumor malignancies

J Dillon, FO Ademuyiwa, M Barrett… - Surgical Oncology …, 2022 - surgonc.theclinics.com
Advances in cancer genetics, targeted therapies, and risk reduction strategies have greatly
transformed the field of oncology. Genetic testing is now an essential tool in the identification …

Diagnostic outcomes of concurrent DNA and RNA sequencing in individuals undergoing hereditary cancer testing

C Horton, L Hoang, H Zimmermann, C Young… - JAMA …, 2024 - jamanetwork.com
Importance Personalized surveillance, prophylaxis, and cancer treatment options for
individuals with hereditary cancer predisposition are informed by results of germline genetic …

[HTML][HTML] Germline pathogenic variants in cancer predisposition genes among women with invasive lobular carcinoma of the breast

S Yadav, C Hu, KL Nathanson, JN Weitzel… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
PURPOSE To determine the contribution of germline pathogenic variants (PVs) in hereditary
cancer testing panel genes to invasive lobular carcinoma (ILC) of the breast. MATERIALS …

Comparison of the prevalence of pathogenic variants in cancer susceptibility genes in black women and non-hispanic white women with breast cancer in the United …

SM Domchek, S Yao, F Chen, C Hu, SN Hart… - JAMA …, 2021 - jamanetwork.com
Importance The prevalence of germline pathogenic variants (PVs) in cancer susceptibility
genes in US Black women compared with non-Hispanic White women with breast cancer is …

[HTML][HTML] Relationship between Telomere Length, TERT Genetic Variability and TERT, TP53, SP1, MYC Gene Co-Expression in the Clinicopathological Profile of …

M Dratwa, B Wysoczanska, W Brankiewicz… - International journal of …, 2022 - mdpi.com
The molecular mechanisms of telomerase reverse transcriptase (TERT) upregulation in
breast cancer (BC) are complex. We compared genetic variability within TERT and telomere …

[HTML][HTML] Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C

C Hu, AB Nagaraj, H Shimelis, G Montalban, KY Lee… - Cancer research, 2023 - AACR
Pathogenic protein-truncating variants of RAD51C, which plays an integral role in promoting
DNA damage repair, increase the risk of breast and ovarian cancer. A large number of …

[HTML][HTML] Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and …

F Zang, X Ding, J Chen, L Hu, J Sun, J Zhang… - Breast Cancer Research …, 2022 - Springer
Purpose Comprehensively analyzing the prevalence of BRCA1/2 germline pathogenic
variants (PVs) in a large cohort of unselected Chinese patients with breast cancer has great …

[HTML][HTML] Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities

C Chen, CJ Lin, YC Pei, D Ma, L Liao, SY Li, L Fan… - Cell Discovery, 2023 - nature.com
Germline-somatic mutation interactions are universal and associated with tumorigenesis, but
their role in breast cancer, especially in non-Caucasians, remains poorly characterized. We …