Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

Olsen, Jørgen H.; Hahnemann, Johanne M D; Børresen-Dale, Anne Lise; Brøndum‐Nielsen, Karen; Hammarström, Lennart; Kleinerman, Ruth A.; Kääriäinen, Helena; Lönnqvist, Tuula; Sankila, Risto; Seersholm, Niels; Tretli, Steinar; Yuen, Jonathan; Boice, John D.; Tucker, Margaret A.

doi:10.1093/jnci/93.2.121

Cited by 208 publications

(144 citation statements)

References 19 publications

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“…Most of the epidemiological studies of AT relatives report an increased risk of breast cancer at younger ages, below 45-55 years (Inskip et al, 1999;Janin et al, 1999;Olsen et al, 2000), contrary from Athma et al (1996). In the present study, only 150 of the patients analysed were below the age of 55 at time of diagnosis, which may explain the low frequency of mutations seen.…”

Section: Discussioncontrasting

confidence: 65%

“…Heterozygotes are clinically asymptomatic, but a number of epidemiological studies in AT families have noted a significant increase in cancer incidence, in breast cancer particularly (Easton, 1994;Athma et al, 1996;Inskip et al, 1999;Janin et al, 1999;Olsen et al, 2000). The relative risk was in the range 1.5-9, depending on population, age and family relation.…”

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confidence: 99%

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Screening breast cancer patients for Norwegian ATM mutations

Laake

Andersen

et al. 2000

Br J Cancer

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483 Norwegian breast cancer patients were screened for six different ataxia telangiectasia mutated ( ATM ) mutations previously found to account for 83% of the disease alleles in Norwegian ataxia telangiectasia (AT) patients. Only one carrier was found. These results provide no evidence in favour of an excess risk of breast cancer associated with heterozygosity for classical AT mutations, but remain consistent with a maximum 2.4-fold increased risk. © 2000 Cancer Research Campaign http://www.bjcancer.com

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Section: Discussioncontrasting

confidence: 65%

mentioning

confidence: 99%

Screening breast cancer patients for Norwegian ATM mutations

Laake

Andersen

et al. 2000

Br J Cancer

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“…41,42 The population attributable proportion of the recessive ATM gene to breast cancer is equally large. 43 A number of studies have reported on the associations of HLA class II alleles with susceptibility to cervical cancer. 44 -46 However, these associations (with different grades of neoplasia or invasive cervical cancer) appear to be relatively weak and it remains to be determined whether they account for a significant proportion of the heritability of the disease.…”

Section: Heritable Effectsmentioning

confidence: 99%

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

Czene

Lichtenstein

Hemminki

2002

Intl Journal of Cancer

471

321

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The genetic and environmental components in 15 common cancers were estimated using the nationwide Swedish Family-Cancer Database. Tetrachoric correlations were used to describe similarity in cancer liability among family members. Structural equation modeling was used to derive estimates of the importance of genetic and environmental effects. Statistically significant estimates of proportion of cancer susceptibility, accounted for by genetic effects, were obtained for all studied cancers except for leukemia. The estimate was highest in thyroid cancer (53%), followed by tumors at endocrine glands (28%), testis (25%), breast (25%), cervix (22%), melanoma (21%), colon (13%), nervous system (12%), rectum (12%), non-Hodgkin lymphoma (10%), lung (8%), kidney (8%), urinary bladder (7%), stomach (1%) and leukemia (1%). The estimates of shared environmental effects ranged from 0% (cervix) to 15% (stomach). The childhood shared environmental effects were most important in testicular cancer (17%), stomach cancer (13%) and cervix in situ (13%). Our results indicate that environment has a principal causative role in cancer at all studied sites except for thyroid. The relatively large effect of heritability in cancer at some sites, on the other hand, indicates that even though susceptibility genes have been described at many cancer sites, they are likely to explain only part of the genetic effects.

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“…Subsequent studies have provided inconclusive and/or inconsistent data about whether/which additional cancers are associated with ATM heterozygosity (Geoffroy-Perez et al, 2001;Olsen et al, 2001;Thompson et al, 2005b). Further, larger studies will be required to investigate the role of ATM in susceptibility to cancers other than breast cancer.…”

Section: Other Phenotypic Features In Atm Heterozygotesmentioning

confidence: 99%

ATM and breast cancer susceptibility

2006

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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 complex processes that repair DNA doublestrand breaks. Nearly 20 years ago, epidemiological surveys of relatives of ataxia-telangiectasia cases suggested that female relatives were at modestly increased risk of breast cancer. Subsequently, many studies have tried to clarify the role of ATM in breast cancer susceptibility, but have produced inconclusive and/or inconsistent results. Recently, large epidemiological and molecular studies have finally provided conclusive evidence that ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

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Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

Cited by 208 publications

References 19 publications

Screening breast cancer patients for Norwegian ATM mutations

Screening breast cancer patients for Norwegian ATM mutations

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

ATM and breast cancer susceptibility

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