Genetic counselling in ALS: facts, uncertainties and clinical suggestions

A Chiò, S Battistini, A Calvo, C Caponnetto… - Journal of Neurology …, 2014 - jnnp.bmj.com
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 …

[HTML][HTML] BRCA1/2 testing for genetic susceptibility to cancer after 25 years: a scoping review and a primer on ethical implications

D Petrova, M Cruz, MJ Sánchez - The Breast, 2022 - Elsevier
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 …

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 …

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 …

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) …

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 …

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 …

Incidental copy-number variants identified by routine genome testing in a clinical population

PM Boone, ZT Soens, IM Campbell, P Stankiewicz… - Genetics in …, 2013 - nature.com
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 …

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population

L Zhang, Z Qin, T Huang, B Tam, Y Ruan… - Journal of Medical …, 2022 - jmg.bmj.com
Background Identifying genetic disease-susceptible individuals through population
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

M Seven, LL Shah, S Daack-Hirsch, H Yazici - Cancer nursing, 2021 - journals.lww.com
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 …