Publications by authors named "Yvette Macary"
According to clinical guidelines, the occurrence of very early-onset breast cancer (VEO-BC) (diagnosed ≤ age 30 years) or VEO ovarian cancer (VEO-OC) (diagnosed ≤ age 40 years) in families with or mutation () prompts advancing the age of risk-reducing strategies in relatives. This study aimed to assess the relation between the occurrence of VEO-BC or VEO-OC in families with and age at BC or OC diagnosis in relatives. We conducted a retrospective multicenter study of 448 consecutive families with from 2003 to 2018.
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- KCNH1 mutations are linked to Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband Syndrome (ZLS), with a new case being diagnosed in a Lebanese child through whole genome sequencing.
- The study identified three mutations, including a damaging mutation in KCNH1 that swaps Glycine for Arginine, which is known to impact the protein's structure and function.
- The research suggests that TMBTS and ZLS may be related syndromes, with differences in symptoms likely due to additional genetic factors influencing the phenotype.