Cancers in 44 families with ataxia-telangiectasia

Morrell, Daphne; Chase, Charles L.; Swift, Michael

doi:10.1016/0165-4608(90)90245-6

Cited by 95 publications

(53 citation statements)

References 4 publications

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“…The finding of this study is in agreement with the increased BC risk previously detected among ATM heterozygotes (Swift et al, 1987(Swift et al, , 1991Pippard et al, 1988;Børresen et al, 1990;Morrell et al, 1990;Athma et al, 1996). The estimated BC relative risk of 3.32 is consistent with Athma et al's (1996) estimate (RR = 3.8) and Easton's (1994) combined estimate (RR = 3.9).…”

Section: Discussionsupporting

confidence: 82%

“…Epidemiological studies of ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially for breast cancer (BC) in women (Swift et al, 1987(Swift et al, , 1991Pippard et al, 1988;Børresen et al, 1990;Morrell et al, 1990;Athma et al, 1996;Stankovic et al, 1998). The estimation of this increased BC risk assessed from the combined analysis of available data in 1994 was 3.9 (Easton, 1994).…”

mentioning

confidence: 99%

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Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

et al. 1999

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Summary Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that an increased sensibility of AT heterozygotes to the effect of ionizing radiation could be responsible for the increased BC risk. BC relative risk (RR) estimation in AT heterozygotes within families ascertained through AT children is presented here. Family data collected included demographic characteristics, occurrence of cancers, past radiation exposures and blood samples. DNA samples were studied using seven ATM linked microsatellites markers allowing AT haplotypes reconstitution. The relative risk of BC was assessed using French estimated incidence rates. A significant increase risk of BC is found among obligate ATM heterozygotes with a point estimate of 3.32 (P = 0.002). BC relative risk calculated according to age is significantly increased among the obligate ATM heterozygotes female relatives with an age ≤ 44 years (RR = 4.55, P = 0.005). The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age ≥ 45 years (RR = 2.48, P = 0.08). The estimated BC relative risk among ATM heterozygotes is consistent with previously published data. However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC.

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Section: Discussionsupporting

confidence: 82%

mentioning

confidence: 99%

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

et al. 1999

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“…It has been suggested that the increased F-actin concentrationn may be responsible for the attractive guidance. During development both motorneuronn and sensory axons choose the correct peripheral nerves from the onset (88,90). It alsoo appears that the motorneuron axons influence the pathfinding of the sensory axons (89).…”

Section: Discussion Nmentioning

confidence: 99%

“…Ataxia-telangiectasiaa (AT or Louis-Bar syndrome) is an autosomal recessive disorder characterized byy ocular and cutaneous telangiectasias, cerebellar ataxia, and recurrent respiratory tract infections (4,89).. As many as one third of patients develop cancer, the majority being lymphoid tumors (90).. The progressive ataxia usually appears during the second to third year, the ocular and cutaneouss lesions occur somewhat later at 3-6 year of age.…”

Section: Telangiectasias Telangiectasiasmentioning

confidence: 99%

Progress toward Understanding Vascular Malformations

Breugem

Horst

Hennekam

2001

Plastic and Reconstructive Surgery

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“…Epidemiological studies on AT families have shown that AT heterozygotes (HetAT) have an increased risk of developing breast cancer (BC). [1][2][3][4][5][6][7][8][9] Combined analysis of the data available in 1994 estimated that in women the risk of BC increased 3.9-fold. 10 Although AT homozygotes are rare, accounting for just 1 in 40,000 -300,000 births, HetAT accounts for about 1% of births in the general population.…”

mentioning

confidence: 99%

Variation in breast cancer risk of heterozygotes for ataxia‐telangiectasia according to environmental factors

Geoffroy‐Perez

Janin

Ossian

et al. 2002

Intl Journal of Cancer

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Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder, characterized by progressive neuronal degeneration, immunological deficiency, radio-sensitivity and an increased risk of cancer. Although several studies have confirmed that AT heterozygosis increases the risk of breast cancer (BC), we do not know how exogenous factors affect this risk. We performed an epidemiological study on the cancer risks associated with AT heterozygosis in France and explored the variation in BC risk according to environmental factors, such as reproductive factors and exposure to ionizing radiation. Information on the amount of ionizing radiation received by an individual in their lifetime and on their reproductive life was collected from the living relatives of 34 AT children (175 female relatives). Consistent with previous reports and with our previous estimate on the entire retrospective cohort, we found that the risk of developing BC is 3.6-fold higher among ATM heterozygous women. An increased risk was associated with an early age at menarche, a late age at first childbirth, nulliparity, premenopausal status and increasing periods of breast cell mitotic activity (BCMA) prior to the first childbirth. Age at menarche, age at 1st childbirth and BCMA seemed to have a stronger effect in ATM heterozygotes than in non-ATM heterozygotes. However, the tests were not all statistically significant (only age at 1st childbirth). Surprisingly, the risk of BC decreased when the chest or breasts were irradiated. It is difficult to interpret the data because of the small sample size, but further investigations should provide a biological explanation for the variation in BC risk associated with exogenous factors according to ATM heterozygosis status.

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Cancers in 44 families with ataxia-telangiectasia

Cited by 95 publications

References 4 publications

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

Progress toward Understanding Vascular Malformations

Variation in breast cancer risk of heterozygotes for ataxia‐telangiectasia according to environmental factors

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