Ataxia‐telangiectasia: A review of clinical features and molecular pathology

P Amirifar, MR Ranjouri, R Yazdani… - Pediatric Allergy and …, 2019 - Wiley Online Library
Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency
(PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene …

The natural history of ataxia-telangiectasia (AT): a systematic review

E Petley, A Yule, S Alexander, S Ojha… - PLoS One, 2022 - journals.plos.org
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

Cancer risk in 680 000 people exposed to computed tomography scans in childhood or adolescence: data linkage study of 11 million Australians

JD Mathews, AV Forsythe, Z Brady, MW Butler… - Bmj, 2013 - bmj.com
Objective To assess the cancer risk in children and adolescents following exposure to low
dose ionising radiation from diagnostic computed tomography (CT) scans. Design …

Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish family‐cancer database

K Czene, P Lichtenstein… - International journal of …, 2002 - Wiley Online Library
The genetic and environmental components in 15 common cancers were estimated using
the nationwide Swedish Family‐Cancer Database. Tetrachoric correlations were used to …

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary …

J Hauke, J Horvath, E Groß, A Gehrig… - Cancer …, 2018 - Wiley Online Library
The prevalence of germ line mutations in non‐BRCA 1/2 genes associated with hereditary
breast cancer (BC) is low, and the role of some of these genes in BC predisposition and …

Cancer risks and mortality in heterozygous ATM mutation carriers

D Thompson, S Duedal, J Kirner… - Journal of the …, 2005 - academic.oup.com
Background: Homozygous or compound heterozygous mutations in the ATM gene are the
principal cause of ataxia telangiectasia (AT). Several studies have suggested that …

Radiation and breast cancer: a review of current evidence

CM Ronckers, CA Erdmann, CE Land - Breast Cancer Research, 2004 - Springer
This paper summarizes current knowledge on ionizing radiation-associated breast cancer in
the context of established breast cancer risk factors, the radiation dose–response …

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

AC Antoniou, PDP Pharoah, G McMullan… - British journal of …, 2002 - nature.com
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic
counselling purposes, it is important to allow for the fact that other breast cancer …

Models of genetic susceptibility to breast cancer

AC Antoniou, DF Easton - Oncogene, 2006 - nature.com
One of the most important risk factors for breast cancer is family history of the disease,
indicating that genetic factors are important determinants of breast cancer risk. A number of …

ATM and breast cancer susceptibility

M Ahmed, N Rahman - Oncogene, 2006 - nature.com
ATM was originally identified by positional cloning as the gene that underlies the autosomal
recessive condition ataxia-telangiectasia. The encoded protein plays a central role in the …