Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis.

Abstract:

:Ataxia-telangiectasia is a syndrome with many facets, involving a progressive cerebellar ataxia, immunodeficiency, cancer susceptibility, radiosensitivity, defects in DNA repair/processing, chromosomal breakage and rearrangements, elevated serum alphafetoprotein, and premature aging. Ataxia-telangiectasia is an autosomal recessive disorder, rare in outbred populations; carriers of the ataxia-telangiectasia gene may be as common as 1 in 60 and have subclinical radiosensitivity and cancer susceptibility. One estimate suggests that 8.8% of patients with breast cancer could be carriers of ataxia-telangiectasia. These carriers may be responsible for underestimating normal tolerance doses for radiation therapy by 15% to 20%; thus by preselecting and excluding carriers of ataxia-telangiectasia from cohorts of patients with cancer, conventional radiation doses might be increased so as to improve greatly the efficacy of radiotherapy. The genes for the 3 most common ataxia-telangiectasia complementation groups, which include 97% of tested families, have recently been localized to the long arm of chromosome 11.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Gatti RA,Boder E,Vinters HV,Sparkes RS,Norman A,Lange K

subject

Has Abstract

pub_date

1991-03-01 00:00:00

pages

99-117

issue

2

eissn

0025-7974

issn

1536-5964

journal_volume

70

pub_type

杂志文章,评审

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