What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research

K Chivers Seymour, J Addington-Hall… - Journal of genetic …, 2010 - Springer
To systematically review and meta-synthesise primary qualitative research findings
regarding family communication following genetic testing of cancer risk, in order to inform …

Genetic information: a joint account?

M Parker, AM Lucassen - Bmj, 2004 - bmj.com
Genetic information: a joint account? | The BMJ Skip to main content Intended for healthcare
professionals Access provided by Google Indexer Subscribe My Account My email alerts BMA …

[HTML][HTML] Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

E Otten, M Plantinga, E Birnie, MA Verkerk… - Genetics in …, 2015 - nature.com
Purpose: With rapid advances in genetic technologies, new genetic information becomes
available much faster today than just a few years ago. This has raised questions about …

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26. 2, 12q13. 13 and 20q13. 33

RS Houlston, J Cheadle, SE Dobbins, A Tenesa… - Nature …, 2010 - nature.com
Genome-wide association studies (GWAS) have identified ten loci harboring common
variants that influence risk of developing colorectal cancer (CRC). To enhance the power to …

[PDF][PDF] GA4GH: International policies and standards for data sharing across genomic research and healthcare

HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz… - Cell genomics, 2021 - cell.com
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR

AM Lucassen, C Julier, JP Beressi, C Boitard… - Nature …, 1993 - nature.com
Recent studies have demonstrated that a locus at 11p15, 5 confers susceptibility to insulin
dependent diabetes mellitus (IDDM). This locus has been shown to lie within a 19 kb region …

[PDF][PDF] Rare variants in NR2F2 cause congenital heart defects in humans

S Al Turki, AK Manickaraj, CL Mercer, SS Gerety… - The American Journal of …, 2014 - cell.com
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a
leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) …

Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and …

D Stirling, DGR Evans, G Pichert, A Shenton… - Journal of Clinical …, 2005 - ascopubs.org
Purpose To assess the effectiveness of annual ovarian cancer screening (transvaginal
ultrasound and serum CA-125 estimation) in detecting presymptomatic ovarian cancer in …

Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical …

KL Lachlan, AM Lucassen, D Bunyan… - Journal of Medical …, 2007 - jmg.bmj.com
Background: The most commonly reported phenotypes described in patients with PTEN
mutations are Bannayan–Riley–Ruvalcaba syndrome (BRRS), with childhood onset …

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

AK Win, JG Dowty, JC Reece, G Lee… - The Lancet …, 2021 - thelancet.com
Background Existing clinical practice guidelines for carriers of pathogenic variants of DNA
mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative …