scholarly journals Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations

2018 ◽  
Vol 21 (3) ◽  
pp. 297 ◽  
Author(s):  
Xinyi Zhu ◽  
Tian Tian ◽  
Miao Ruan ◽  
Jia Rao ◽  
Wentao Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Damage ◽  
Cancer Patients ◽  
Dna Damage Response ◽  
Familial Breast Cancer ◽  
Breast Cancer Patients ◽  
Clinicopathologic Characteristics ◽  
Damage Response

Expression of proteins involved in DNA damage response in familial and sporadic breast cancer patients

2015 ◽  
Vol 138 (1) ◽  
pp. 110-120 ◽  
Author(s):  
Giulia Partipilo ◽  
Giovanni Simone ◽  
Anna Scattone ◽  
Emanuela Scarpi ◽  
Amalia Azzariti ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Damage ◽  
Cancer Patients ◽  
Dna Damage Response ◽  
Sporadic Breast Cancer ◽  
Breast Cancer Patients ◽  
Damage Response

scholarly journals Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function

Oncogene ◽  
2009 ◽  
Vol 28 (16) ◽  
pp. 1843-1852 ◽  
Author(s):  
J Nikkilä ◽  
K A Coleman ◽  
D Morrissey ◽  
K Pylkäs ◽  
H Erkko ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Damage ◽  
Cancer Screening ◽  
Breast Cancer Screening ◽  
Response Function ◽  
Dna Damage Response ◽  
Familial Breast Cancer ◽  
Damage Response

Identification and validation of an assay predictive of response and prognosis following anthracycline-based chemotherapy for early breast cancer.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. TPS11120-TPS11120
Author(s):  
Jude M. Mulligan ◽  
Laura A. Hill ◽  
Steve Deharo ◽  
Katherine E. Keating ◽  
Olaide Raji ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Damage ◽  
Dna Damage Response ◽  
Breast Cancer Patients ◽  
Molecular Subgroup ◽  
Sporadic Tumor ◽  
Damage Response ◽  
Ffpe Samples ◽  
Cyclophosphamide Treatment ◽  
Independent Cohort

TPS11120 Background: Currently there is no biomarker to predict specific benefit from DNA-damaging anthracycline and cyclophosphamide-based chemotherapy in the clinic. Loss of the Fanconi anemia/BRCA (FA/BRCA) DNA-damage response pathway occurs in approximately 25% of breast cancer and results in sensitivity to DNA-damaging agents. We therefore developed an assay to detect loss of the FA/BRCA pathway, for the purpose of predicting benefit from chemotherapy. Methods: 21 FA patient samples were analyzed to identify genetic processes associated with loss of the FA/BRCA pathway. Unsupervised hierarchical clustering was then performed using 60 BRCA1/2 mutant and 47 sporadic tumor samples and a molecular subgroup was identified that was defined by the molecular processes representing loss of the FA/BRCA pathway. A 44-gene DNA Damage response deficient (DDRD) assay was developed that could identify this subgroup from formalin fixed, paraffin embedded (FFPE) samples in the clinic. Results: In a publicly available independent cohort of 204 patients, the assay predicted response to neoadjuvant DNA-damaging chemotherapy (5-fluorouracil, anthracycline and cyclophosphamide) with an odds ratio of 4.01, (95% Cl:1.69-9.54). We also analysed samples from an independent cohort of 114 node-negative breast cancer patients treated with adjuvant 5-fluorouracil, epirubicin and cyclophosphamide treatment at the Northern Ireland Cancer Centre. The DDRD assay significantly predicted 5-year relapse free survival with a hazard ratio of 0.27 (95% Cl:0.10-0.83). The assay was not predictive of survival in patients who did not receive chemotherapy. Conclusions: An FFPE tissue-based assay that detects loss of the FA/BRCA pathway has been developed and independently validated as a predictor of response and prognosis following DNA damaging anthracycline/cyclophosphamide-based chemotherapy in the neoadjuvant and adjuvant settings.

scholarly journals Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Muhammad Usman Rashid ◽  
Noor Muhammad ◽  
Faiz Ali Khan ◽  
Umara Shehzad ◽  
Humaira Naeemi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Familial Breast Cancer ◽  
High Performance ◽  
Breast Cancer Patients ◽  
Germline Variants ◽  
Variants Of Unknown Significance ◽  
Breast Cancer Predisposition ◽  
Novel Variants

Abstract Background The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.

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