A5103030767- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Prostate Cancer Treatment and Research
- Renal and related cancers
- Ethics in Clinical Research
- Pancreatic and Hepatic Oncology Research
- Genomics and Rare Diseases
- Biological Research and Disease Studies
- CRISPR and Genetic Engineering
- Tuberous Sclerosis Complex Research
- Global Cancer Incidence and Screening
- Renal cell carcinoma treatment
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán
2021-2024
PURPOSE Genetic cancer risk assessment (GCRA) provides pathogenic variant (PV) carriers with the invaluable opportunity to undertake timely risk-reducing (RR) measures and initiate cascade testing (CT). This study describes uptake of these strategies related barriers among breast cancer–associated germline PV in Mexico. METHODS Carriers who were at least 6 months after disclosure genetic test results two GCRA referral centers invited answer a survey assessing sociodemographic...
PurposeThe purpose of this manuscript is to show the process establishment and adaptation an oncogenetics program in Mexico.MethodsThe oncogentics at Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service adapted include telemedicine counseling expand services other hospitals persists mixed model with research/commercial genetic testing.ResultsA total 2222 participants were included median age 47 years 77.6% women; 64% 36%...
Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC).The spectrum PVs identified TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed.Of 387 invasive median age at diagnosis 39 years (range 21-72), 113 (29%) carriers BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, TP53). PV younger (37 vs. 40 years, p=0.004) than...
Abstract Background: The prevalence of germline pathogenic variants in Mexican women with breast cancer who met the reference criteria for genetic risk assessment (GCRA) has been previously reported as close to 20%. However, information regarding spectrum gPVs genes other than BRCA this population is limited. Methods: This prospective study included were diagnosed BC and international GCRA. Participants enrolled Clinical Cancer Genomics Community Research Network (CCGCRN) registry at two...
Abstract BACKGROUND Currently, international genetic cancer risk assessment (GCRA) guidelines recommend testing for the identification of germline pathogenic variants (PVs) in patients with metastatic breast (MBC) to guide systemic therapy. Patients PVs BRCA genes are candidates receive poly(adenosine diphosphate–ribose) polymerase inhibitors (PARPi). The prevalence HER2-negative MBC has been reported be 10%. proportion low- and middle-income countries (LMIC) is higher. However, access LMIC...
Germline pathogenic variants (PV) in the BRCA1 gene increase risk of breast cancer (BC). Yet, extent to which different types PV affect BC phenotype and outcomes is poorly understood. In particular, whether large genomic rearrangements (LGR) are associated with distinct clinicopathological features survival remains unexplored. We conducted a retrospective multicenter study germline carriers diagnosed BC. Patients BRCA-associated malignancies prior diagnosis or other BC-susceptibility genes...
The Case A 47-year-old woman with a history of drug-resistant epilepsy during childhood presented to the emergency department sudden dyspnea and chest pain. Upon admission, her oxygen saturation was 88%. CT scan revealed pulmonary cystic lesions consistent lymphangioleiomyomatosis right spontaneous pneumothorax, which resolved placement tube. Physical examination hypopigmented macule on skin lumbar region, facial angiofibromas, periungual fibromas. An abdominal MRI documented multiple...
Abstract Background: BRCA mutations are responsible for a significant proportion of hereditary breast and ovarian cancers. However, other cancer susceptibility genes also associated with an increased risk developing (BC). In Mexico, approximately 15% patients BC have been identified mutations. Despite our growing understanding mutations, the contribution characterization non-BRCA in Mexican diagnosis remains unknown. We aimed to investigate spectrum BC-associated among referred genetic...