Deepening Understanding of Melanoma Genetics
Using an international collection of 900 melanoma-prone families assembled by Genotype (the Melanoma Genetics Consortium), Dr. Peter Kanetsky enhanced existing predication models estimating carriage of mutations in CKDN2A, the major high-penetrance gene for melanoma. He also developed a web-based risk calculator, GenoMELPREDICT, to aid decision-making of health professionals for individuals to either receive genetic testing or cancer risk counseling.
Germline Risk for Breast and Ovarian Cancers
Dr. Alvaro Monteiro has functionally classified variants in high-penetrance risk genes for breast and ovarian cancer, including BRCA1, BRCA2, and PALB2. He also developed several widely used resources to interpret findings of rare variants of uncertain clinical significance (VUS) and has developed guidelines for variant classification. These pioneering functional studies have a global reach, as they are being used by genetic testing companies to interpret clinical relevance of inherited variants.
Efficacy of HPV Vaccines
Dr. Anna Giuliano is part of a longstanding international team conducting clinical trials to evaluate the human papillomavirus (HPV) prevention vaccines of Merck Pharmaceuticals. Findings from her research studies have resulted in changes to FDA label licensing for Gardasil9 in the US that increased the maximum age for vaccination to 45 years regardless of sex, an update of recommendations from the Advisory Committee on Immunization Practices, and accelerated FDA approval of Gardasil9 for the prevention of oropharyngeal cancer.
Inflammation and Ovarian Cancer Risk and Survival
Dr. Shelly Tworoger reported on the benefits of aspirin use for women in relation to ovarian cancer risk and survival. She found that women with ovarian cancer who reported post-diagnosis recent use of aspirin had improved cancer-specific survival compared to never users, and this survival advantage extended to women who were non-users before diagnosis and became users post-diagnostic users. For women without disease, those who were current users of low-dose aspirin had a reduced risk of developing ovarian cancer development.
Radiomics for Early Detection of Lung Cancer and Patient Outcomes
Dr. Matthew Schabath has ongoing research to investigate the radiomics (the conversion of digital medical images into quantitative data) of lung cancer to improve diagnostic discrimination, assess risk prediction, and to distinguish indolent from aggressive tumors. Along with other Moffitt scientist and clinicians, he developed novel clinical-radiomic models to predict rapid disease progression phenotypes and clinical benefit in advanced-stage lung cancer patients treated with tyrosine kinase inhibitors or immunotherapy. If externally confirmed, these prediction models can be integrated into clinical practice to inform precision treatment recommendations.