Publications by authors named "M C Bolla"
The role of germline genetics in adjuvant aromatase inhibitor (AI) treatment efficacy in ER-positive breast cancer is poorly understood. We employed a two-stage candidate gene approach to examine associations between survival endpoints and common germline variants in 753 endocrine resistance-related genes. For a discovery cohort, we screened the Breast Cancer Association Consortium database (n ≥ 90,000 cases) and retrieved 2789 AI-treated patients.
View Article and Find Full Text PDFBackground: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.
Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.
Article Synopsis
- Carriers of BRCA1/2 pathogenic variants were studied to determine their risk of developing cancers during childhood, adolescence, and young adulthood (CAYA).
- Analysis of data from over 47,000 individuals revealed that while young women with BRCA1/2 mutations had a significantly increased risk of breast cancer in their 20s, no increased risk was found for other types of CAYA cancers.
- The study concluded that there's little evidence to support routine genetic testing for children of BRCA1/2 carriers or for young cancer patients, as the overall cancer risk appears low aside from breast cancer in young women.
Metatarsal Osteotomy versus Metatarsal Head Resection for Distal Diabetic Foot Ulcers.
J Am Podiatr Med Assoc
November 2024
Background: We compared the effectiveness of metatarsal osteotomy, specifically using the osteoclasis (OC) technique, with that of metatarsal head resection (MHR) in healing distal metatarsal plantar ulcers.
Methods: This retrospective study reviewed patients who underwent OC or MHR for the treatment of submetatarsal ulcers between January 1, 2014, and December 31, 2017. Patients with infected ulcers or osteomyelitis were excluded.
Article Synopsis
- Known genetic risk factors account for about one-third of familial endometrial cancer cases, but the link between rare germline copy number variants (CNVs) and cancer risk is not well understood.
- A study analyzed DNA from over 4,000 endometrial cancer patients and nearly 18,000 controls, finding that the cancer group had a significantly higher number of CNVs.
- The research identified 141 gene loci potentially related to endometrial cancer risk, highlighting a specific area (16p11.2) with recurrent deletions that could help further investigations into genetic susceptibility.