Publications by authors named "R Schmutzler"
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.
Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.
Article Synopsis
- Carriers of BRCA1/2 pathogenic variants were studied to determine their risk of developing cancers during childhood, adolescence, and young adulthood (CAYA).
- Analysis of data from over 47,000 individuals revealed that while young women with BRCA1/2 mutations had a significantly increased risk of breast cancer in their 20s, no increased risk was found for other types of CAYA cancers.
- The study concluded that there's little evidence to support routine genetic testing for children of BRCA1/2 carriers or for young cancer patients, as the overall cancer risk appears low aside from breast cancer in young women.
Article Synopsis
- The German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) has established a system for monitoring women at high risk for breast cancer, recommending annual screenings using the BOADICEA risk model for those with a 10-year risk of 5% or more.
- Women with a family history of breast cancer may qualify for increased surveillance as they age, even if their initial risk doesn’t meet the threshold.
- Two methods were compared for determining when a woman's risk increases: the 'prediction by aging pedigree' (AP) which tracks family history over time, and a simpler 'conditional probability' (CP) approach, which estimates future risks based on initial assessments; the CP method was found to be
Female BRCA1/2 pathogenic variant (PV) carriers face substantial risks for breast and ovarian cancer. Evidence-based decision aids (DAs) can facilitate these women in their decision-making process on an individually suitable preventive strategy. However, there is a gap in previous literature exploring whether DA effectiveness varies according to women's age.
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