A5029874203- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Congenital Diaphragmatic Hernia Studies
- Ovarian cancer diagnosis and treatment
- Chromatin Remodeling and Cancer
- Nutrition, Genetics, and Disease
- Genomic variations and chromosomal abnormalities
- Cancer Mechanisms and Therapy
- Breast Cancer Treatment Studies
- CRISPR and Genetic Engineering
- Pancreatic and Hepatic Oncology Research
- Cancer Risks and Factors
- Neuroendocrine Tumor Research Advances
- Global Cancer Incidence and Screening
- Prostate Cancer Treatment and Research
- Cancer-related Molecular Pathways
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- PARP inhibition in cancer therapy
- Protein Degradation and Inhibitors
- Colorectal Cancer Screening and Detection
- Genomics and Rare Diseases
- RNA modifications and cancer
McGill University
2016-2025
Jewish General Hospital
2016-2025
McGill University Health Centre
2016-2025
Cancer Genetics (United States)
2007-2024
Belfast Health and Social Care Trust
2015-2024
Tygerberg Hospital
2024
National Health Laboratory Service
2024
Stellenbosch University
2024
Institut Bergonié
2024
University Health Network
2010-2023
A basal epithelial phenotype is found in not more than 15% of all invasive breast cancers. Microarray studies have shown that this associated with cancers express neither estrogen receptor (ER) nor erbB-2 (HER2/neu) (i.e., ER/erbB-2-negative tumors). The ER/erbB-2- negative also occurring BRCA1 mutation carriers BRCA1-related cancers). We tested the hypothesis are likely non-BRCA1/ 2-related cancer to a phenotype. Among 292 specimens previously analyzed for ER, erbB-2, p53, and germline...
An international group of cancer geneticists review the level evidence for association gene variants with risk breast cancer. It is difficult to draw firm conclusions from data because ascertainment bias and lack large populations.
Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk developing cancer. In general, sequence-based germline DNA used determine whether an individual carries a change that clearly likely disrupt normal gene function. may detect changes are pathogenic, neutral, or variants unclear significance. Such present considerable challenge the diagnostic laboratory and receiving clinician terms interpretation clear presentation implications result...
To estimate the risk of contralateral breast cancer in BRCA1 and BRCA2 carriers after diagnosis to determine which factors are predictive a second primary cancer.Patients included 491 women with stage I or II cancer, for whom mutation had been identified family. Patients were followed from initial until mastectomy, death, last follow-up.The actuarial was 29.5% at 10 years. Factors that reduced presence (v mutation; hazard ratio [HR], 0.73; 95% CI, 0.47 1.15); age 50 years older first <or= 49...
The purposes of this study were to estimate the reduction in risk ovarian, fallopian tube, or peritoneal cancer women with a BRCA1 BRCA2 mutation after oophorectomy, by age oophorectomy; impact prophylactic oophorectomy on all-cause mortality; and 5-year survival associated clinically detected occult, cancers diagnosed cohort.Women identified from an international registry; 5,783 completed baseline questionnaire ≥ one follow-up questionnaires. Women observed until either diagnosis cancer,...
A mini-symposium was held in Montreal, Canada, at the International Surgical Week for Breast 2007 addressing question whether breast cancer is same disease Asian and Western countries. Numerous investigators from countries presented epidemiologic clinical outcome data of women with cancer. Although there are significant similarities, striking difference that peak age between 40 50 years countries, whereas 60 70 years. Also, incidence Asia rising associated increased mortality. In West,...
Triple-negative (TN; estrogen receptor, progesterone and HER-2 negative) cancer basal-like breast (BLBC) are associated with poor outcome lack the benefit of targeted therapy. It is widely perceived that BLBC TN tumors synonymous can be defined using a definition without need for expression basal markers.We have used two well-defined cohorts cancers large panel biomarkers, BRCA1 mutation status, follow-up data to compare clinicopathologic immunohistochemical features expressing one or more...
The purpose of this study was to estimate the extent protection offered against breast cancer by prophylactic oophorectomy in carriers BRCA1 or BRCA2 mutations and determine what risk reduction varies with age at oophorectomy, diagnosis, time elapsed since surgery.We analyzed 1,439 patients 1,866 matched controls derived from a registry carriers. We estimated odds ratios (ORs) for having had bilateral using conditional logistic regression, parity oral contraceptive use.A previous history...
Germline truncating mutations in DICER1, an endoribonuclease the RNase III family that is essential for processing microRNAs, have been observed families with pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers are at risk nonepithelial ovarian tumors, notably sex cord-stromal tumors.We sequenced whole transcriptomes or exomes of 14 tumors noted closely clustered region DICER1 encoding IIIb domain four samples. We then this additional certain other queried effect...
Tumor infiltrating lymphocytes may indicate an immune response to cancer development, but their significance remains controversial in breast cancer. We conducted this study assess CD8+ (cytotoxic T) lymphocyte infiltration a large cohort of invasive early stage cancers, and evaluate its prognostic effect different intrinsic subtypes.Immunohistochemistry for CD8 staining was performed on tissue microarrays from 3992 patients. tumor were counted as intratumoral when direct contact with cells,...
Abstract Purpose: Previous research identified differences in breast cancer–specific mortality across 4 intrinsic tumor subtypes: luminal A, B, basal-like, and human epidermal growth factor receptor 2 positive/estrogen negative (HER2+/ER−). Experimental Design: We used immunohistochemical markers to subtype 1,149 invasive cancer patients (518 African American, 631 white) the Carolina Breast Cancer Study, a population-based study of women diagnosed with cancer. Vital status was determined...