Results 41 to 50 of about 33,569 (238)

Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection

Frontiers in Oncology, 2020
BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA).
Angelo Virgilio Paradiso, Angelo Virgilio Paradiso, Margherita Patruno, Maria Digennaro, Stefania Tommasi, Brunella Pilato, Antonella Argentiero, Oronzo Brunetti, Nicola Silvestris, Nicola Silvestris   +9 more
doaj   +1 more source

Management of BRCA mutation carriers [PDF]

Translational Cancer Research, 2018
Pathogenic mutations in two autosomal dominant genes, BRCA1 and BRCA2 , with high penetrance are supposed to be the cause for an approximated 5–7% risk of all breast cancer (BC) and ovarian cancer (OC). Compared to sporadic BC, BRCA mutated ( BRCAmut ) BC differs for lifetime risk of onset and sensitivity to systemic therapies.
Paris I., Di Giorgio D., Palluzzi E., Garganese G., Terribile D. A., Fragomeni S. M., D'Archi S., Scambia G., Masetti R.   +8 more
openaire   +2 more sources

Germline BRCA Mutation and Clinical Outcomes in Breast Cancer Patients Focusing on Survival and Failure Patterns: A Long-Term Follow-Up Study of Koreans

Medicina, 2020
Background and Objectives: This study aimed to evaluate the effect of a BRCA mutation on survival and failure patterns, focusing on the risk of ipsilateral recurrence and contralateral breast cancer in patients.
Hakyoung Kim, Doo Ho Choi, Won Park
doaj   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Extracellular vesicle lipidomics liquid biopsy reveals systemic and tumor microenvironment metabolic reprogramming in ovarian cancer

Molecular Oncology, EarlyView.
Extracellular vesicle (EV) lipidomic profiling of plasma and ascites from patients with high‐grade serous ovarian cancer and of ovarian cancer cell lines reveals enrichment of triglycerides (TGs), diacylglycerols (DGs), phosphatidylcholine (PCs), sphingomyelins (SMs), reflecting tumor metabolic reprogramming.
Shikha Rani, Dominic Guanzon, Andrew Lai, Katherin Scholz‐Romero, Sarah Reed, Edita Ritmejeryte, Rohan Lourie, Naven Chetty, Kaltin Ferguson, Carlos Salomon   +9 more
wiley   +1 more source

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area

BMC Cancer
Background Deleterious BRCA1/2 (BRCA) mutation raises the risk for BRCA mutation-related malignancies, including breast, ovarian, prostate, and pancreatic cancer. Germline variation of BRCA exhibits substantial ethnical diversity.
Zhiyuan Wu, Qingyun Zhang, Yiting Jin, Xinju Zhang, Yanli Chen, Can Yang, Xuemei Tang, Haowen Jiang, Xiaoyi Wang, Xinli Zhou, Feng Yu, Bing Wang, Ming Guan   +12 more
doaj   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study

Reproductive Biology and Endocrinology
Background The process of gamete formation and early embryonic development involves rapid DNA replication, chromosome segregation and cell division. These processes may be affected by mutations in the BRCA1/2 genes.
Ilana Weizel, Tal Shavit, Yulia Shuli, Chana Adler Lazarovich, Rivka Halevi, Tal Ben Ari, Shira Yaacobi-Artzi, Yaakov Bentov, Baruch Feldman, Anat Hershko Klement   +9 more
doaj   +1 more source

Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer

Journal of Ovarian Research, 2019
Objective To evaluate impact of germline BRCA mutational status on prognosis in patients with advanced ovarian cancer. Methods A total of 128 patients diagnosed with FIGO stage III-IV high-grade serous ovarian cancer (HGSOC) between 2008 and 2017 and ...
Se Ik Kim, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song   +6 more
doaj   +1 more source