Results 21 to 30 of about 46,564 (215)

BRCA1/2 associated cancer susceptibility: a clinical overview

Forum of Clinical Oncology, 2016
The most frequently identified genetic cause of breast cancer is the germline mutation of BRCA1 and 2 genes. The carriers of these mutations are at high risk for breast and ovarian cancers and increased risk for pancreatic and prostate cancers.
Lypas Georgios
doaj   +1 more source

BRCA2 and homologous recombination [PDF]

Breast Cancer Research, 2001
Two recent papers provide new evidence relevant to the role of the breast cancer susceptibility gene BRCA2 in DNA repair. Moynahan et al provide genetic data indicating a requirement for BRCA2 in homology-dependent (recombinational) repair of DNA double-strand breaks.
B J, Orelli, D K, Bishop
openaire   +2 more sources

Founder mutations in Nepalese population [PDF]

Journal of Pathology and Translational Medicine, 2022
Background Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene.
Anurag Mehta, Himanshi Diwan, Garima Gupta, Shrinidhi Nathany, Shalini Agnihotri, Surender Dhanda   +5 more
doaj   +1 more source

RPA, RFWD3 and BRCA2 at stalled forks: a balancing act

Molecular & Cellular Oncology, 2020
We recently identified E3 ligase RFWD3 as a modulator of stalled fork stability in BRCA2-deficient cells. We also show that BRCA1 might function upstream of BRCA2 during fork repair and that blocking fork degradation by depleting MRE11 does not guarantee
Haohui Duan, Shailja Pathania
doaj   +1 more source

A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2

Case Reports in Oncology, 2021
We report a rare case of hereditary breast and ovarian cancer syndrome (HBOC) with pathogenic variants in both BRCA1 and BRCA2. The patient was a 78-year-old woman who visited the hospital after noticing a lump in her left breast 6 months before, which ...
Miyuki Kitahara, Yasuo Hozumi, Mitsuki Machinaga, Yuka Hayashi   +3 more
doaj   +1 more source

Detection of BRCA2 Genes Polymorphism among Prostate Cancer Patients in Sudan 2020: A Case-Control Study [PDF]

Journal of Liaquat National Hospital
Background: Prostate cancer (PCa) has been associated with BRCA2 mutations; however, reported risk estimates differ greatly, mainly because of variations in retrospective study designs.
Randa Elginad, Dafalla Omer Abuidris, Mohammed Abdelwahed, Ameer Mohmed Dafalla, Yousif Abdelhameed Mohammed, Khalid Abdelsamea Mohamedahmed, Mohamed Elimam Mohamed Ahmed, Adil Mergani   +7 more
doaj   +1 more source

BRCA1/2 Expression Patterns in Different Grades of Oral Squamous Cell Carcinoma [PDF]

Middle East Journal of Cancer, 2020
Background: Oral squamous cell carcinoma (OSCC) is the sixth most common cancer worldwide and has a poor prognosis. The breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes are the key tumor suppressor genes responding in the cases of DNA damage ...
Soussan Irani, Mitra Rafizadeh
doaj   +1 more source

Limited Independent Follow-Up with Germline Testing of Variants Detected in BRCA1 and BRCA2 by Tumor-Only Sequencing [PDF]

Journal of Immunotherapy and Precision Oncology
Introduction Genomic profiling is performed in patients with advanced or metastatic cancer, in order to direct cancer treatment, often sequencing tumor-only, without a matched germline comparator.
Carol J. Nowlen, Molly Daniels, Burak Uzunparmak, Ecaterina E. Ileana Dumbrava, Ying Yuan, Keyur P. Patel, Nadine Rayes, Jacqueline Harkenrider, Chetna Wathoo, Jennifer Veazie, Krystle A. Luna, Wanlin Wang, Chacha Horombe, Milind Javle, Jordi Rodon Ahnert, Timothy A. Yap, Banu Arun, Karen H. Lu, Funda Meric-Bernstam   +18 more
doaj   +1 more source

Targeting the NPL4 Adaptor of p97/VCP Segregase by Disulfiram as an Emerging Cancer Vulnerability Evokes Replication Stress and DNA Damage while Silencing the ATR Pathway

Cells, 2020
Research on repurposing the old alcohol-aversion drug disulfiram (DSF) for cancer treatment has identified inhibition of NPL4, an adaptor of the p97/VCP segregase essential for turnover of proteins involved in multiple pathways, as an unsuspected cancer ...
Dusana Majera, Zdenek Skrott, Katarina Chroma, Joanna Maria Merchut-Maya, Martin Mistrik, Jiri Bartek   +5 more
doaj   +1 more source

The tumor mutational landscape of BRCA2-deficient primary and metastatic prostate cancer

npj Precision Oncology, 2022
Carriers of germline BRCA2 pathogenic sequence variants have elevated aggressive prostate cancer risk and are candidates for precision oncology treatments.
Kevin H. Kensler, Shakuntala Baichoo, Shailja Pathania, Timothy R. Rebbeck   +3 more
doaj   +1 more source