1991
DOI: 10.1056/nejm199112263252602
|View full text |Cite
|
Sign up to set email alerts
|

Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

Abstract: The ataxia-telangiectasia gene predisposes heterozygotes to cancer, particularly breast cancer in women. There is also excess mortality from all causes in adults under the age of 60. Diagnostic or occupational exposure to ionizing radiation probably increases the risk of breast cancer in women heterozygous for ataxia-telangiectasia.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

15
443
4
13

Year Published

1994
1994
2003
2003

Publication Types

Select...
9

Relationship

0
9

Authors

Journals

citations
Cited by 868 publications
(481 citation statements)
references
References 20 publications
15
443
4
13
Order By: Relevance
“…there is exvidence that AT heterozvgositv may be associated with an increased frequency of certain types of cancer. particularly breast carcinoma (Swift et al 1987. 1991: Pippard et al 1988.…”
Section: Discussionmentioning
confidence: 99%
“…there is exvidence that AT heterozvgositv may be associated with an increased frequency of certain types of cancer. particularly breast carcinoma (Swift et al 1987. 1991: Pippard et al 1988.…”
Section: Discussionmentioning
confidence: 99%
“…Within this fraction of breast cancer the germline mutations in BRCA1 (Miki et al, 1994) and BRCA2 genes most frequently form a favorable genetic background for the disease. Also at increased risk are the carriers of one abnormal allele of the ataxia telangiectasia gene (Swift et al, 1991), the carriers of rare minisatelite allele at the HRAS1 locus (Krontiris et al, 1993) and the members of Li Fraumeni families with germline mutation in the p53 gene (Srivastava et al, 1990).…”
Section: Introductionmentioning
confidence: 99%
“…Within this fraction of breast cancer the germline mutations in BRCA1 (Miki et al, 1994) and BRCA2 genes most frequently form a favorable genetic background for the disease. Also at increased risk are the carriers of one abnormal allele of the ataxia telangiectasia gene (Swift et al, 1991), the carriers of rare minisatelite allele at the HRAS1 locus (Krontiris et al, 1993) and the members of Li Fraumeni families with germline mutation in the p53 gene (Srivastava et al, 1990).The BRCA1 gene located on chromosome 17q21 (Hall et al, 1990) is also linked to hereditary ovarian cancer (Narod et al, 1991). More than 400 BRCA1 sequence variants have been identi®ed thus far and deposited in Breast Cancer Information Core Database (Friend et al, 1995) which now contains about 150 di erent cancer predisposing mutations.…”
mentioning
confidence: 99%
“…These findings are consistent with two earlier studies: one study of the British families that first identified the 7271T4G mutation and reported a similarly large increased risk of breast cancer among three carriers of that mutation (RR ¼ 12.7,) (Stankovic et al, 1998); and a second study by Broeks (Broeks et al, 2000) of earlyonset female breast cancer, where three out of the seven ATM mutations found were IVS10-6T4G. While not all studies of ATM gene mutations demonstrate an excess risk of breast cancer (FitzGerald et al, 1997;Bebb et al, 1999;Shafman et al, 2000), studies that have screened for missense mutations (Athma et al, 1996;Teraoka et al, 2001) and those that have examined risk among family members of A-T patients (obligate heterozygotes) (Swift et al, 1987(Swift et al, , 1991Pippard et al, 1988;Borresen et al, 1990;Inskip et al, 1999;Olsen et al, 2001) have consistently found an elevated risk. Combined, these results provide evidence for an increased breast cancer risk associated with specific ATM gene mutations.…”
mentioning
confidence: 99%