Serous Tubal Intraepithelial Carcinoma in a Risk-reducing Salpingo-oophorectomy Specimen From a RAD51D Mutation Carrier: A Case Report.

The RAD51D gene codes a protein-paralog of the RAD51 DNA recombinase, which catalyzes DNA strand exchange during homologous recombination. Similar to BRCA1 / BRCA2 , mutations in RAD51D both predispose to ovarian carcinoma and impart sensitivity to poly (ADP-ribose) polymerase inhibitors in preclinical studies. Based on cancer risk prediction models, RAD51D mutations pose a moderate-to-high risk for ovarian cancer warranting consideration for risk-reducing surgery.

Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.

Background: It is likely that additional genes for hereditary breast cancer can be identified using a discordant sib pair design. Using this design we identified individuals harboring a rare PMS1 c.605G>A variant previously predicted to result in loss of function.

U.S. Internists' Perspectives on Discussing Cost of Care With Patients: Structured Interviews and a Survey.

Background: Rising out-of-pocket costs are creating a need for cost conversations between patients and physicians.

Objective: To understand the factors that influence physicians to discuss and consider cost during a patient encounter.

Design: Mixed-methods study using semistructured interviews and a survey.

Visual Representations of Risk Enhance Long-Term Retention of Risk Information: A Randomized Trial.

Background: People often overestimate their risk of developing cancer, which can cause undue worry and unwarranted risk-reducing actions. Standard counseling has a limited and short-lived effect on correcting these misperceptions. We conducted a randomized study to evaluate whether incorporation of visual depictions of risk improves the efficacy and durability of cancer risk counseling.