Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer.

Importance: Metaplastic breast cancer (MpBC) is a rare, heterogeneous disease often associated with inferior outcomes. A growing body of literature describes the clinical and molecular features of MpBC, yet limited data describe the pathogenic germline variants (PGVs) in breast cancer susceptibility genes among affected individuals.

Objective: To examine the frequency and types of PGVs in breast cancer genes among patients with MpBC.

Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.

Pathogenic germline variants (PGVs) in the CDH1 gene are associated with diffuse gastric and lobular breast cancer syndrome (DGLBC) and can increase the lifetime risk for both diffuse gastric cancer and lobular breast cancer. Given the risk for diffuse gastric cancer among individuals with CDH1 PGVs is up to 30-40%, prophylactic total gastrectomy is often recommended to affected individuals. Therefore, accurate interpretation of CDH1 variants is of the utmost importance for proper clinical decision-making.

Impact of integrating genomic data into the electronic health record on genetics care delivery.

Purpose: Integrating genomic data into the electronic health record (EHR) is key for optimally delivering genomic medicine.

Methods: The PennChart Genomics Initiative (PGI) at the University of Pennsylvania is a multidisciplinary collaborative that has successfully linked orders and results from genetic testing laboratories with discrete genetic data in the EHR. We quantified the use of the genomic data within the EHR, performed a time study with genetic counselors, and conducted key informant interviews with PGI members to evaluate the effect of the PGI's efforts on genetics care delivery.

Correction: Evidence of transmission of Clostridium difficile in asymptomatic patients following admission screening in a tertiary care hospital.

[This corrects the article DOI: 10.1371/journal.pone.

Evidence of transmission of Clostridium difficile in asymptomatic patients following admission screening in a tertiary care hospital.

Background: Clostridium difficile (CD) is the leading cause of infectious health-care associated diarrhea. However, little is known regarding CD carriage and transmission amongst asymptomatic colonizers. We evaluated carriage, characterized strains and examined epidemiologic linkages in asymptomatic colonized CD patients.