Background: pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.
Methods: We retrospectively reviewed clinical and genetic data of a French series of 29 -mutated MB.
Results: All patients developed SHH-MB, with a biallelic inactivation of found in 24 tumors.
Goal Attainment Scaling (GAS) is a method for writing person-centred approach evaluation scales that can be used as an outcome measure in clinical or research settings in rehabilitation. To be used in a research setting, it requires a high methodological quality approach. The aim of this study was to explore the feasibility and reliability of the GAS quality rating system, to ensure that GAS scales used as outcome measures are valid and reliable.
View Article and Find Full Text PDFObjectives: Breast cancer is the most common female cancer in the world. In France, over 60,000 new cases are currently diagnosed, and 12,000 deaths are attributed to it annually. Numerous studies have shown that the risk of metastatic disease increases with tumor volume.
View Article and Find Full Text PDFBackground: Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for improving risk prediction in the general population. However, the effect of these SNPs may vary from one country to another and within a country because of other factors.
Objective: To assess their associated risk and predictive performance in French women from (1) the CECILE population-based case-control study, (2) BRCA1 or BRCA2 (BRCA1/2) pathogenic variant (PV) carriers from the GEMO study, and (3) familial breast cancer cases with no BRCA1/2 PV and unrelated controls from the GENESIS study.