Genetic Testing in Young Adults With Cancer Study

NCT04533555

NAINTERVENTIONAL

University of Pennsylvania

749 participants

Started 2020-12-01 · Completed 2025-09-26

Status: Completed (as of 12-23-2025)

Conditions

Cancer

Interventions

GENETIC: Broad gene panel for young adult cancers GENETIC: Standard

Linked Papers (from SciSciNet-V2)

Total Papers45

Background

29

Result

0

Derived

0

Unknown

16

View on ClinicalTrials.gov

Total Citations Per Year

Brief Summary

The overarching goal of our research is to define an evidence-based, sustainable approach to identifying and managing genetic risk among young adults with cancer and their relatives. Conventional practice leaves referral and testing decisions to mostly non-expert clinicians implementing complex guidelines at the point of care, leading to substantial under-utilization. The investigators hypothesize that panel-based universal screening coupled with electronic medical record- (EMR-) based algorithms can improve ascertainment of genetic risk by functioning as an automated, radically simplified default practice in place of repeated single decisions requiring clinician cognitive effort and action. A secondary goal is to explore differences in ascertainment of genetic risk among first-degree relatives of probands.

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Background Papers58

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

Biology of breast cancer in young women

Biology of breast cancer in young women

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

Germline Genetic Features of Young Individuals With Colorectal Cancer

Germline Genetic Features of Young Individuals With Colorectal Cancer

Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

Next steps for adolescent and young adult oncology workshop: An update on progress and recommendations for the future

Next steps for adolescent and young adult oncology workshop: An update on progress and recommendations for the future

Health Care Segregation, Physician Recommendation, and Racial Disparities inBRCA1/2Testing Among Women With Breast Cancer

Health Care Segregation, Physician Recommendation, and Racial Disparities inBRCA1/2Testing Among Women With Breast Cancer

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Factors Determining Dissemination of Results and Uptake of Genetic Testing in Families with Known BRCA1/2 Mutations

Factors Determining Dissemination of Results and Uptake of Genetic Testing in Families with Known BRCA1/2 Mutations

Germline TP53 Variants and Susceptibility to Osteosarcoma

Germline TP53 Variants and Susceptibility to Osteosarcoma

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

Biologic and clinical characteristics of adolescent and young adult cancers: Acute lymphoblastic leukemia, colorectal cancer, breast cancer, melanoma, and sarcoma

Biologic and clinical characteristics of adolescent and young adult cancers: Acute lymphoblastic leukemia, colorectal cancer, breast cancer, melanoma, and sarcoma

Second Primary Malignant Neoplasms and Survival in Adolescent and Young Adult Cancer Survivors

Second Primary Malignant Neoplasms and Survival in Adolescent and Young Adult Cancer Survivors

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative

Communication of BRCA Results and Family Testing in 1,103 High-Risk Women

Communication of BRCA Results and Family Testing in 1,103 High-Risk Women

Increased yield of actionable mutations using multi-gene panels to assess hereditary cancer susceptibility in an ethnically diverse clinical cohort

Increased yield of actionable mutations using multi-gene panels to assess hereditary cancer susceptibility in an ethnically diverse clinical cohort

Underdiagnosis of Lynch Syndrome Involves More Than Family History Criteria

Underdiagnosis of Lynch Syndrome Involves More Than Family History Criteria

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety

The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

A mutational comparison of adult and adolescent and young adult (AYA) colon cancer

A mutational comparison of adult and adolescent and young adult (AYA) colon cancer

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

Impact of a genetic counseling requirement prior to genetic testing

Impact of a genetic counseling requirement prior to genetic testing

Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population‐based study

Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population‐based study

Cancer incidence in English children, adolescents and young people: past trends and projections to 2030

Cancer incidence in English children, adolescents and young people: past trends and projections to 2030

Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer

Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer

Result Papers0

No result papers linked

Derived Papers0

No derived papers linked

Unknown Papers16

Colorectal cancer statistics, 2017

3,601 citations

The distinctive biology of cancer in adolescents and young adults

Racial Differences in the Use of <EMPH>BRCA1/2</EMPH> Testing Among Women With a Family History of Breast or Ovarian Cancer

Family History of Breast and Ovarian Cancers and BRCA1 and BRCA2 Mutations in a Population-Based Series of Early-Onset Breast Cancer

Sharing BRCA1/2 Test Results With First-Degree Relatives: Factors Predicting Who Women Tell

Increased risk of second malignant neoplasms in adolescents and young adults with cancer

Uptake of Genetic Testing by Relatives of Lynch Syndrome Probands: A Systematic Review

Toward New Strategies to Select Young Endometrial Cancer Patients for Mismatch Repair Gene Mutation Analysis

Genetic counseling and cascade genetic testing in Lynch syndrome

Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer

Adolescent and Young Adult Cancer Biology

Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group

Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility

Impact of Payer Constraints on Access to Genetic Testing

Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives

Impact of latency time on survival for adolescents and young adults with a second primary malignancy