Publications by authors named "M G Ausems"
Background: International guidelines recommend germline genetic testing for men with metastatic prostate cancer. If offered to all patients by genetic healthcare professionals, there will be insufficient capacity to cope with the high patient numbers. In a mainstreaming pathway, non-genetic healthcare professionals (ngHCPs) discuss and order germline genetic testing instead of referring patients to genetic healthcare professionals.
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- Risk-reducing salpingo-oophorectomy (RRSO) significantly lowers the risk of high-grade serous carcinoma (HGSC) in women carrying BRCA1/2 genetic variants, but some still develop HGSC after the procedure.
- A study involving 2,519 women found that the 20-year cumulative incidence of HGSC was low (1.5% for BRCA1 and 0.2% for BRCA2 carriers), with particular risk factors identified, such as older age at RRSO and incomplete embedding of RRSO specimens.
- Implementing strict guidelines for timely RRSO and ensuring complete specimen embedding could further minimize the risk of developing HGSC in these patients
Cohort profile: a nationwide study in Dutch c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.
Maartje A C Schreurs Muriel A Adank Antoinette Hollestelle Rosa de Groot Denise J Stommel-Jenner Margreet G E M Ausems
BMJ Open
October 2024
Article Synopsis
- The c.1100delC genetic variant is linked to a higher risk of breast cancer in women, with research focusing on its effects within a Dutch study cohort, Hebon, which initially centered on known breast cancer-related genetic variants.
- The study included 1,802 female participants, revealing that carriers of c.1100delC were diagnosed with breast cancer at younger ages and had specific cancer characteristics compared to non-carriers.
- Future research aims to enhance understanding of breast cancer risk in women who test negative but are from families with c.1100delC, utilizing ongoing data from the Netherlands Cancer Registry.
Article Synopsis
- The study checked how well the BOADICEA model predicts breast cancer risk for people who carry certain gene changes (called pathogenic variants).
- They looked at information from a group of over 1,600 participants and found that the model worked really well, especially when considering family history and other risk factors.
- The results can help doctors and patients make better choices about cancer management, and the model can be accessed for free on the CanRisk website.
Purpose: Female CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported.
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