Cascade testing for hereditary cancer syndromes: should we move toward direct relative contact? A systematic review and meta-analysis

MK Frey, MD Ahsan, H Bergeron, J Lin, X Li… - Journal of Clinical …, 2022 - ascopubs.org
PURPOSE Evidence-based guidelines recommend cascade genetic counseling and testing
for hereditary cancer syndromes, providing relatives the opportunity for early detection and …

Genetic testing for all: overcoming disparities in ovarian cancer genetic testing.

MK Frey, A Finch, A Kulkarni, MR Akbari… - American Society of …, 2022 - europepmc.org
Nearly 3% of the population carries genetic variants that lead to conditions that include
hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants …

[HTML][HTML] Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

EM Fiala, G Jayakumaran, A Mauguen, JA Kennedy… - Nature cancer, 2021 - nature.com
The spectrum of germline predisposition in pediatric cancer continues to be realized. Here
we report 751 patients with solid tumors who underwent prospective matched tumor–normal …

Germline genetic testing after cancer diagnosis

AW Kurian, P Abrahamse, A Furgal, KC Ward… - Jama, 2023 - jamanetwork.com
Importance Germline genetic testing is recommended by practice guidelines for patients
diagnosed with cancer to enable genetically targeted treatment and identify relatives who …

Disparities in cancer genetics care by race/ethnicity among pan‐cancer patients with pathogenic germline variants

YL Liu, A Maio, Y Kemel, EE Salo‐Mullen… - Cancer, 2022 - Wiley Online Library
Background Germline risk assessment is increasing as part of cancer care; however,
disparities in subsequent genetic counseling are unknown. Methods Pan‐cancer patients …

Diagnostic outcomes of concurrent DNA and RNA sequencing in individuals undergoing hereditary cancer testing

C Horton, L Hoang, H Zimmermann, C Young… - JAMA …, 2024 - jamanetwork.com
Importance Personalized surveillance, prophylaxis, and cancer treatment options for
individuals with hereditary cancer predisposition are informed by results of germline genetic …

[HTML][HTML] Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer

JG Hamilton, H Symecko, K Spielman, K Breen… - Genetics in …, 2021 - Elsevier
Purpose To address demands for timely germline information to guide treatments, we
evaluated experiences of patients with ovarian, pancreatic, and prostate cancer with a …

Prospective feasibility trial of a novel strategy of facilitated cascade genetic testing using telephone counseling

MK Frey, RM Kahn, E Chapman-Davis… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE A powerful consequence of detecting cancer-associated pathogenic variants is
the ability to test at-risk relatives (ARRs), termed cascade testing. However, historical studies …

[HTML][HTML] Lynch syndrome cancer vaccines: A roadmap for the development of precision immunoprevention strategies

S Sei, A Ahadova, DB Keskin, L Bohaumilitzky… - Frontiers in …, 2023 - frontiersin.org
Hereditary cancer syndromes (HCS) account for 5~ 10% of all cancer diagnosis. Lynch
syndrome (LS) is one of the most common HCS, caused by germline mutations in the DNA …

Comprehensive analysis of germline drivers in endometrial cancer

S Gordhandas, E Rios-Doria, KA Cadoo… - JNCI: Journal of the …, 2023 - academic.oup.com
Background We sought to determine the prevalence of germline pathogenic variants (gPVs)
in unselected patients with endometrial cancer (EC), define biallelic gPVs within tumors, and …