Publications by authors named "J M Weitzel"

Purpose: The purpose of this manuscript is to show the process of the establishment and adaptation of an oncogenetics program in Mexico.

Methods: The oncogentics program at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service and adapted to include telemedicine counseling to expand services to other hospitals and persists as a mixed counseling model with research/commercial genetic testing.

Results: A total of 2222 participants were included with a median age of 47 years and 77.

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Purpose: To determine the relationship between germline pathogenic variants (PVs) in cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS).

Methods: Germline PV frequencies in breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, and RAD51D) were compared between DCIS cases and unaffected controls, and between DCIS and infiltrating ductal carcinoma (IDC) cases from a clinical-testing cohort (n=9,887), a population-based cohort (n=3,876) and the UK Biobank (n=2421). The risk of contralateral breast cancer for DCIS cases with PVs was estimated in the population-based cohort.

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Purpose: Women with pathogenic variants (PVs) in breast cancer (BC) and ovarian cancer (OC) associated genes are candidates for cancer risk-reducing strategies. Limited information is available regarding risk-reducing surgeries (RRS) among Hispanics. The aim of this study was to describe the uptake of RRS in an international real-world experience of Hispanic women referred for genetic cancer risk assessment (GCRA) and to identify factors affecting uptake.

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Article Synopsis
  • Pathogenic variants (PVs) in certain genes like BRCA1 and BRCA2 increase breast cancer risk, but it's unclear how risk varies based on the type and location of these variants.
  • This study analyzed breast cancer risks associated with different PV types and locations using data from 12 US studies and clinical cohorts involving over 64,000 women.
  • Results showed that women with specific exon PTVs had higher breast cancer risks, lower rates of ER-negative breast cancer, and were diagnosed at younger ages compared to those with other variants, with these patterns observed across multiple cohorts.
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Background: Approximately 15% of colorectal cancers (CRCs) are associated with germline mutations. There is increasing adoption of DNA-based assays for molecular residual disease (MRD) and growing evidence supporting its clinical utility, particularly for CRC by oncologists in the U.S.

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