The Risk Information and Skin-cancer Education for Undergraduate Prevention (RISE-UP) Study: Protocol for a Trial of Personalized Sun Protection Interventions for Skin Cancer Prevention among Undergraduate Students.

Background: Addressing the increasing incidence of skin cancer among young adults is a priority. The objective of the Risk Information and Skin-cancer Education for Undergraduate Prevention (RISE-UP) study is to identify personalized intervention components to prevent sunburn, a clinically significant outcome highly associated with skin cancer, in college students.

Methods: Guided by the Elaboration Likelihood Model, the study will use Multiphase Optimization Strategy (MOST) methodology to test three intervention components (ultraviolet photography, MC1R genetic testing, and action planning) each with two levels (yes v.

Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes.

Wilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed in the related article from the AACR Pediatric Cancer Working Group. Guidelines for surveillance in this population were published in 2017, but since then several studies have identified new genes with recurrent pathogenic variants associated with increased risk for Wilms tumor development.

Determinants of Breast Cancer Screening Adherence During the COVID-19 Pandemic in a Cohort at Increased Inherited Cancer Risk in the United States.

Background: We examined neighborhood characteristics concerning breast cancer screening annual adherence during the COVID-19 pandemic.

Methods: We analyzed 6673 female patients aged 40 or older at increased inherited cancer risk in 2 large health care systems (NYU Langone Health [NYULH] and the University of Utah Health [UHealth]). Multinomial models were used to identify predictors of mammogram screening groups (non-adherent, pre-pandemic adherent, pandemic period adherent) in comparison to adherent females.

Women's preferences for genetic screening in routine care: A qualitative study.

Objective: Examine decision-making regarding when women would prefer to receive reproductive carrier and cancer predisposition screening and from what clinician.

Methods: 20 women completed in-depth interviews via Zoom exploring their views on the provision of reproductive carrier and cancer predisposition screening. Our analysis identified themes related to what informs women's preferences for when they would like to receive a genetic screening offer and by which clinician.

Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial.

Importance: Increasing numbers of unaffected individuals could benefit from genetic evaluation for inherited cancer susceptibility. Automated conversational agents (ie, chatbots) are being developed for cancer genetics contexts; however, randomized comparisons with standard of care (SOC) are needed.

Objective: To examine whether chatbot and SOC approaches are equivalent in completion of pretest cancer genetic services and genetic testing.

Management of bilateral head and neck paragangliomas at a single-institution across four decades.

Background: Bilateral head and neck paragangliomas (HNPGLs) require nuanced management to balance tumor control with functional preservation.

Methods: All patients seen at a single-institution for bilateral paraganglioma between 1983 and 2023 were retrospectively reviewed. Demographics, genetic testing results, and tumor characteristics were analyzed and compared to treatment modality and cranial nerve outcomes.

Update on Genetic Counselor Practice and Recommendations for Pediatric Cancer Predisposition Evaluation and Surveillance.

In July 2023, the American Association for Cancer Research held the second Childhood Cancer Predisposition Workshop, at which international experts in pediatric cancer predisposition met to update the previously published 2017 consensus statements on pediatric cancer predisposition syndromes. Since 2017, advances in tumor and germline genetic testing and increased understanding of cancer predisposition in patients with pediatric cancer have led to significant changes in clinical care. Here, we provide an updated genetic counseling framework for pediatric oncology professionals.

Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics.

Purpose: This study investigates a real-world multicenter cohort of patients with urinary tract cancer (UTC), with primary disease sites including the bladder, urethra, and upper tract, who enrolled for research molecular testing of their germline and tumor. The purpose of this study was to evaluate factors that could affect the likelihood of identifying a clinically actionable germline pathogenic variant (PV).

Methods: Patients with UTC were identified from 10 cancer institutes of the Oncology Research Information Exchange Network consortium.

Founder Variants and Thyroid Cancer Risk.

Germline pathogenic variants in are associated with a moderate increase in the lifetime risk for breast cancer. Increased risk for other cancers, including non-medullary thyroid cancer (NMTC), has also been suggested. To date, data implicating variants in NMTC predisposition primarily derive from studies within Poland, driven by a splice site variant (c.

Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.

Purpose: To develop recommendations for germline mutation testing for patients with breast cancer.

Methods: An ASCO-Society of Surgical Oncology (SSO) panel convened to develop recommendations based on a systematic review and formal consensus process.

Results: Forty-seven articles met eligibility criteria for the germline mutation testing recommendations; 18 for the genetic counseling recommendations.

Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome.

Background: Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is limited understanding of patient experiences after initial testing and counseling, the barriers or facilitators they experience adhering to recommendations, and how they want to receive information over time.

Methods: A cross-sectional, observational study was conducted among 127 probands and family members who had received genetic testing for Lynch Syndrome.

Enhanced family history-based algorithms increase the identification of individuals meeting criteria for genetic testing of hereditary cancer syndromes but would not reduce disparities on their own.

Objective: This study aimed to 1) investigate algorithm enhancements for identifying patients eligible for genetic testing of hereditary cancer syndromes using family history data from electronic health records (EHRs); and 2) assess their impact on relative differences across sex, race, ethnicity, and language preference.

Materials And Methods: The study used EHR data from a tertiary academic medical center. A baseline rule-base algorithm, relying on structured family history data (structured data; SD), was enhanced using a natural language processing (NLP) component and a relaxed criteria algorithm (partial match [PM]).

Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age.

Objective: To examine cognitive, relational, and social predictors of interest in and timing preference for cancer predisposition testing (CPT) and expanded carrier screening (ECS) offered in routine gynecologic care for women of reproductive age.

Methods: Women between 20 and 35 years old who were currently pregnant or had a prior pregnancy ( = 351) completed an online survey. Bivariate and multivariable analyses were used to identify significant predictors of women's interest in and timing preference for CPT and ECS.

LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.

While there are several public repositories of biological sequence variation data and associated annotations, there is little open-source tooling designed specifically for the upkeep of local collections of variant data. Many clinics curate and maintain such local collections and are burdened by frequent changes in the representation of those variants and evolving interpretations of clinical significance. A dictionary of genetic variants from the Huntsman Cancer Institute was analyzed over a period of two years and used to inform the development of LocalVar.

Predictors of Women's Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members.

Introduction: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results.

Methods: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were enrolled between April 2018 and October 2019.

Barriers to family history collection among Spanish-speaking primary care patients: a BRIDGE qualitative study.

Objectives: Family history is an important tool for assessing disease risk, and tailoring recommendations for screening and genetic services referral. This study explored barriers to family history collection with Spanish-speaking patients.

Methods: This qualitative study was conducted in two US healthcare systems.

Increasing Skin Cancer Prevention in Young Adults: the Cumulative Impact of Personalized UV Photography and MC1R Genetic Testing.

Skin cancer has become increasingly common among young adults; however, this population does not consistently adhere to recommended methods for preventing the disease. Interventions in college settings have relied on appearance-focused appeals and have not been able to examine the cumulative effect of multiple behavior change and skin cancer risk communication strategies. The goal of the current study was to examine the unique and combined impacts of personalized ultraviolet (UV) radiation photographs, genetic testing for skin cancer risk, and general skin cancer prevention education.

'I had a bigger cancer risk than I thought…': The experience of receiving personalized risk information as part of a skin cancer prevention intervention in the college setting.

Background: Diagnoses of both melanoma and nonmelanoma skin cancers are becoming increasingly common among young adults. Interventions in this population are a priority because they do not consistently follow skin cancer prevention recommendations.

Objectives: The goal of the current study was to examine college students' perspectives on and experience with receiving a skin cancer prevention intervention that provided personalized skin cancer risk feedback in the form of an ultraviolet (UV) photograph, the results of genetic testing for common skin cancer risk variants, and/or general skin cancer prevention education.

A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant.

Pathogenic variants (PVs) in the SDHD gene increase risk for paragangliomas (PGL)/pheochromocytomas, renal cell carcinomas, and gastrointestinal stromal tumors. Penetrance in individuals with SDHD PVs varies in reported research from 40-70%, and there is limited evidence of specific genotype risks. This study aims to characterize a multi-generational family with SDHD p.