Publications by authors named "Marie Louise Accardo"
Article Synopsis
- Birt-Hogg-Dubé (BHD) syndrome is a genetic disorder linked to the FLCN gene, causing benign skin lesions, spontaneous lung issues, and an increased risk of kidney tumors.
- A study at the University of Michigan reviewed cases of patients with skin lesions (trichodiscoma and fibrofolliculoma) to evaluate genetics referrals and test results related to BHD.
- Of the 64 patients studied, only 25% were referred for genetic counseling, but among those tested, 64% were diagnosed with BHD, highlighting the importance of early referral for better management of associated conditions.
JCO Precis Oncol
September 2023
Article Synopsis
- A study explored the prevalence of hereditary factors in renal cell carcinoma (RCC) by analyzing the presence of pathogenic or likely pathogenic (P/LP) germline variants in patients who underwent genetic testing.
- Out of 321 analyzed patients, 13.1% had P/LP variants, with notable mutations found in specific genes, and nearly half of these patients had mutations that could be targeted for treatment.
- The research found that bilateral or multifocal tumors were linked to P/LP variants, but factors like age and family cancer history did not significantly affect genetic testing outcomes, emphasizing the need for better genetic evaluation methods in RCC patients.
