Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer.

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.

Ultrasound-based quantitative microvasculature imaging for early prediction of response to neoadjuvant chemotherapy in patients with breast cancer.

Background: Angiogenic activity of cancerous breast tumors can be impacted by neoadjuvant chemotherapy (NAC), thus potentially serving as a marker for response monitoring. While different imaging modalities can aid in evaluation of tumoral vascular changes, ultrasound-based approaches are particularly suitable for clinical use due to their availability and noninvasiveness. In this paper, we make use of quantitative high-definition microvasculature imaging (qHDMI) based on contrast-free ultrasound for assessment of NAC response in breast cancer patients.

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited nephropathy often resulting in kidney failure. It is genetically heterogeneous; along with the major genes, PKD1 and PKD2, at least 8 others have been suggested. ALG8 pathogenic variants have been associated with autosomal dominant polycystic liver disease and implicated in ADPKD, while ALG9 has been suggested as an ADPKD gene, but details of the phenotypes and penetrance are unclear.

Musician's Experience After Breast Cancer Treatment: Defining Musical Toxicity and its Frequency.

Purpose: Over 50% of households in the United States have at least one musician-many musicians are also breast cancer survivors. This group has not been well studied, and given the level of fine sensory-motor skill required for musicianship, we hypothesized that musicians experience unique manifestations of breast cancer treatment toxicities.

Methods: A nine-item Musical Toxicity Questionnaire (MTQ) was distributed to patients who had consented to participate in the Mayo Clinic Breast Cancer Registry.

C2-Selective Palladium-Catalyzed C-S Cross-Coupling of 2,4-Dihalopyrimidines.

Under most conditions, 2,4-dihalopyrimidines undergo substitution reactions at C4. Here we report that Pd(II) precatalysts supported by bulky -heterocyclic carbene ligands uniquely effect C2-selective cross-coupling of 2,4-dichloropyrimidine with thiols. The regioselectivity of this reaction stands in stark contrast to ∼1500 previously reported Pd-catalyzed cross-couplings that favor C4 in the absence of other substituents on the pyrimidine ring.