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 …

Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome

NJ Samadder, D Riegert-Johnson, L Boardman… - JAMA …, 2021 - jamanetwork.com
Importance Hereditary factors play a key role in the risk of developing several cancers.
Identification of a germline predisposition can have important implications for treatment …

Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients

AW Kurian, KC Ward, N Howlader… - Journal of Clinical …, 2019 - ascopubs.org
PURPOSE Genetic testing for cancer risk has expanded rapidly. We examined clinical
genetic testing and results among population-based patients with breast and ovarian …

Frequency of pathogenic germline variants in cancer-susceptibility genes in patients with osteosarcoma

L Mirabello, B Zhu, R Koster, E Karlins, M Dean… - JAMA …, 2020 - jamanetwork.com
Importance Osteosarcoma, the most common malignant bone tumor in children and
adolescents, occurs in a high number of cancer predisposition syndromes that are defined …

Germline testing in patients with breast cancer: ASCO–Society of Surgical Oncology Guideline

I Bedrosian, MR Somerfield, MI Achatz… - Journal of Clinical …, 2024 - ascopubs.org
PURPOSE To develop recommendations for germline mutation testing for patients with
breast cancer. METHODS An ASCO–Society of Surgical Oncology (SSO) panel convened to …

[HTML][HTML] Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: a multicenter prospective study

PLS Uson Jr, D Riegert-Johnson, L Boardman… - Clinical …, 2022 - Elsevier
Background & Aims Hereditary factors play a role in the development of colorectal cancer
(CRC). Identification of germline predisposition can have implications on treatment and …

Cascading after peridiagnostic cancer genetic testing: an alternative to population-based screening

K Offit, KA Tkachuk, ZK Stadler, MF Walsh… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE Despite advances in DNA sequencing technology and expanded medical
guidelines, the vast majority of individuals carrying pathogenic variants of common cancer …

Use of a chatbot to increase uptake of cascade genetic testing

T Schmidlen, CL Jones… - Journal of genetic …, 2022 - Wiley Online Library
Successful proband‐mediated family communication and subsequent cascade genetic
testing uptake requires interventions that present information clearly, in sufficient detail, and …

Digital health-enabled genomics: opportunities and challenges

Y Bombard, GS Ginsburg, AC Sturm, AY Zhou… - The American Journal of …, 2022 - cell.com
Digital health solutions, with apps, virtual care, and electronic medical records, are gaining
momentum across all medical disciplines, and their adoption has been accelerated, in part …