Genetic counselling in ALS: facts, uncertainties and clinical suggestions
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely
modified by the identification of novel genes, the detection of gene mutations in apparently …
modified by the identification of novel genes, the detection of gene mutations in apparently …
[HTML][HTML] BRCA1/2 testing for genetic susceptibility to cancer after 25 years: a scoping review and a primer on ethical implications
Background Mutations in the genes called BRCA1 and BRCA2 are associated with
significantly elevated lifetime risk of developing breast and ovarian cancer. This year marks …
significantly elevated lifetime risk of developing breast and ovarian cancer. This year marks …
Young adult daughters of BRCA1/2 positive mothers: What do they know about hereditary cancer and how much do they worry?
AF Patenaude, N Tung, PD Ryan, LW Ellisen… - Psycho …, 2013 - Wiley Online Library
Objective The objectives of this study are to determine (i) what daughters, ages 18–24 years,
of BRCA1/2 mutation carriers understand about their 50% chance of carrying a BRCA1/2 …
of BRCA1/2 mutation carriers understand about their 50% chance of carrying a BRCA1/2 …
The right not to know and the obligation to know
B Davies - Journal of Medical Ethics, 2020 - jme.bmj.com
There is significant controversy over whether patients have a 'right not to know'information
relevant to their health. Some arguments for limiting such a right appeal to potential burdens …
relevant to their health. Some arguments for limiting such a right appeal to potential burdens …
Practical aspects of genetic counseling in breast cancer: lights and shadows
A Christinat, O Pagani - The Breast, 2013 - Elsevier
In unselected populations, less than 10% of breast cancers are associated with germline
mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) …
mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) …
Inequities in genetic testing for hereditary breast cancer: implications for public health practice
A Sayani - Journal of Community Genetics, 2019 - Springer
Abstract The Ontario Breast Screening Program for women with a genetic predisposition to
breast cancer is one of the first international models of a government-funded public health …
breast cancer is one of the first international models of a government-funded public health …
Knowledge, attitudes, willingness to pay, and patient preferences about genetic testing and subsequent risk management for cancer prevention
F Guo, JM Hirth, EL Fuchs, LE Cofie, V Brown… - Journal of Cancer …, 2022 - Springer
Abstract Knowledge, attitudes, and patient preferences about genetic testing and
subsequent risk management for cancer prevention among average risk populations are …
subsequent risk management for cancer prevention among average risk populations are …
Incidental copy-number variants identified by routine genome testing in a clinical population
Purpose: Mutational load of susceptibility variants has not been studied on a genomic scale
in a clinical population, nor has the potential to identify these mutations as incidental …
in a clinical population, nor has the potential to identify these mutations as incidental …
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population
Background Identifying genetic disease-susceptible individuals through population
screening is considered as a promising approach for disease prevention. DNA mismatch …
screening is considered as a promising approach for disease prevention. DNA mismatch …
Experiences of BRCA1/2 Gene Mutation–Positive Women with Cancer in Communicating Genetic Risk to Their Relatives
Background When a woman is diagnosed with hereditary breast or ovarian cancer, family
members may be at high risk of cancers associated with BRCA1/2 gene mutation and …
members may be at high risk of cancers associated with BRCA1/2 gene mutation and …