The homologous recombination (HR) repair pathway for DNA damage, particularly the BRCA1 and BRCA2 genes, has become a target for cancer therapy, with poly ADP-ribose polymerase (PARP) inhibitors showing significant outcomes in treating germline BRCA1/2 (gBRCA1/2) mutated breast cancer. Recent ...
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304:967–75. Article CAS PubMed PubMed Central Google Scholar Tung NM, Garber JE. BRCA1/2 ...
The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regres...
The purpose of these revised consensus guidelines from the Spanish Society of Medical Oncology (SEOM) and the Spanish Society of Pathological Anatomy (SEAP) is to recommend which biomarkers should routinely be tested in patients with breast cancer; including conventional markers, genetic platforms, and...
Pathological complete response (pCR) after neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC) varies between 30 and 40% approximately. To provide further insight into the prediction of pCR, we evaluated the role of an epigenetic methy
Jianzhong Su2,7,25*, Xiang Wang1* and Nan Wu3,4,21,22* Abstract Background: Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interven...
Table 1. Lifetime cancer risk in BC for HBOC. In a single-center retrospective analysis, after BRCA1 and BRCA2 PGVs, CHEK2 PGVs are by far the most prevalent, followed by ATM, PALB2, and TP53 PGVs [9]. However, it is known that the lifetime breast cancer risk for carriers of...
The association between genetics and lifestyle factors is crucial when determining breast cancer susceptibility, a leading cause of deaths globally. This research aimed to compare the body mass index, smoking behavior, hormonal influences, and BRCA gene