Publications by authors named "Sarah K Mantia"
Objective: To execute a large-scale, decentralized, clinical-grade whole exome sequencing study, coined Tapestry, for clinical practice, research discovery, and genomic education.
Patients And Methods: Between July 1, 2020, and May 31, 2024, we invited 1,287,608 adult Mayo Clinic patients to participate in Tapestry. Of those contacted, 114,673 patients were consented and 98,222 (65.
Purpose: Examine MRI phenotypes of breast cancers arising in patients with various pathogenic variants, to assess for imaging trends and associations.
Method: Multisite retrospective review evaluated 410 patients from 2001 to 2020 with breast cancer and a predisposing pathogenic variant who underwent breast MRI at time of cancer diagnosis. Dominant malignant lesion features were reported, including lesion type (mass versus non-mass enhancement), size, shape, margin, internal enhancement pattern, plus other features.
Article Synopsis
- Capturing family history and using new-onset diabetes as early markers can help identify individuals at higher risk for pancreatic cancer for early surveillance programs.
- The study developed a questionnaire that combined family cancer history with the ENDPAC model, leading to 25.8% of participants having significant familial risk factors and some referred for genetic testing.
- Ultimately, the combination of family history screening and the ENDPAC model effectively identified high-risk individuals, resulting in referrals for genetic counseling and enrollment in pancreatic cancer surveillance.