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 …

[HTML][HTML] Lung cancer is also a hereditary disease

PR Benusiglio, V Fallet, M Sanchis-Borja… - European …, 2021 - Eur Respiratory Soc
Pathogenic genetic variants (formerly called mutations) present in the germline of some
individuals are associated with a clinically relevant increased risk of developing lung cancer …

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] Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems

R Manchanda, L Sun, S Patel, O Evans, J Wilschut… - Cancers, 2020 - mdpi.com
Clinical criteria/Family history-based BRCA testing misses a large proportion of BRCA
carriers who can benefit from screening/prevention. We estimate the cost-effectiveness of …

Prioritizing the detection of rare pathogenic variants in population screening

P Lacaze, R Manchanda, RC Green - Nature Reviews Genetics, 2023 - nature.com
Population genomic screening to detect carriers of rare monogenic variants for medically
actionable conditions is supported by substantial evidence of clinical utility and cost …

Cost-effectiveness of gene-specific prevention strategies for ovarian and breast cancer

X Wei, L Sun, E Slade, CT Fierheller, S Oxley… - JAMA Network …, 2024 - jamanetwork.com
Importance Pathogenic variants (PVs) inBRCA1, BRCA2, PALB2, RAD51C, RAD51D, and
BRIP1cancer susceptibility genes (CSGs) confer an increased ovarian cancer (OC) risk …

[HTML][HTML] Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)—Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 …

L Incorvaia, D Fanale, G Badalamenti, M Bono, V Calò… - Cancers, 2020 - mdpi.com
Recent advances in the detection of germline pathogenic variants (PVs) in BRCA1/2 genes
have allowed a deeper understanding of the BRCA-related cancer risk. Several studies …

Population-based genetic testing for Women's cancer prevention

O Evans, F Gaba, R Manchanda - … Practice & Research Clinical Obstetrics & …, 2020 - Elsevier
Germline mutations in cancer-susceptibility-genes (CSG) can dramatically increase
womens' lifetime risk of ovarian, endometrial, breast and bowel cancers. Identification of …

[HTML][HTML] From the patient to the population: use of genomics for population screening

C Mighton, S Shickh, V Aguda, S Krishnapillai… - Frontiers in …, 2022 - frontiersin.org
Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention
at the population level given the ongoing under-ascertainment of high-risk and actionable …

[HTML][HTML] Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis

MD Ahsan, SR Levi, EM Webster, H Bergeron, J Lin… - PEC innovation, 2023 - Elsevier
Purpose To evaluate rates of familial disclosure of hereditary cancer syndrome information.
Methods A systematic review and meta-analysis was conducted in accordance with PRISMA …