Cascade testing for hereditary cancer syndromes: should we move toward direct relative contact? A systematic review and meta-analysis
PURPOSE Evidence-based guidelines recommend cascade genetic counseling and testing
for hereditary cancer syndromes, providing relatives the opportunity for early detection and …
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 …
individuals are associated with a clinically relevant increased risk of developing lung cancer …
Genetic testing for all: overcoming disparities in ovarian cancer genetic testing.
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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
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 …
Methods A systematic review and meta-analysis was conducted in accordance with PRISMA …