Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy.

2.50
Hdl Handle:
http://hdl.handle.net/10541/94728
Title:
Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy.
Authors:
Appleby, J; Barber, J B; Levine, Edward; Varley, Jennifer; Taylor, A M; Stankovic, T; Heighway, Jim; Warren, C; Scott, David
Abstract:
The effectiveness of cancer radiotherapy is compromised by the small proportion (approximately 5%) of patients who sustain severe normal tissue damage after standard radiotherapy treatments. Predictive tests are required to identify these highly radiosensitive cases. Patients with the rare, recessively inherited, cancer-prone syndrome ataxia-telangiectasia (A-T) sustain extremely severe normal tissue necrosis after radiotherapy and their cultured cells are also highly radiosensitive. Clinically normal carriers (heterozygotes) of the A-T gene have an increased risk of breast cancer, account for approximately 4% of all breast cancer cases and show a modest increase in cellular radiosensitivity in vitro. It has been suggested that a substantial proportion of highly radiosensitive (HR) breast cancer patients may be A-T heterozygotes, and that screening for mutations in the A-T gene could be used as a predictive test. We have tested this hypothesis in a group of cancer patients who showed adverse reactions to radiotherapy. Sixteen HR breast cancer patients showing mainly acute reactions (and seven HR patients with other cancers) were tested for ATM mutations using the restriction endonuclease fingerprinting assay. No mutations typical of those found in obligate A-T heterozygotes were detected. If the estimate that 4% of breast cancer cases are A-T gene carriers is correct, then ATM mutations do not confer clinical radiosensitivity. These early results suggest that screening for ATM mutations in cancer patients may not be of value in predicting adverse reactions.
Affiliation:
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital (NHS) Trust, Manchester, UK.
Citation:
Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy. 1997, 76 (12):1546-9 Br. J. Cancer
Journal:
British Journal of Cancer
Issue Date:
1997
URI:
http://hdl.handle.net/10541/94728
PubMed ID:
9413938
Type:
Article
Language:
en
ISSN:
0007-0920
Appears in Collections:
All Christie Publications ; All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorAppleby, Jen
dc.contributor.authorBarber, J Ben
dc.contributor.authorLevine, Edwarden
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorTaylor, A Men
dc.contributor.authorStankovic, Ten
dc.contributor.authorHeighway, Jimen
dc.contributor.authorWarren, Cen
dc.contributor.authorScott, Daviden
dc.date.accessioned2010-03-23T16:35:39Z-
dc.date.available2010-03-23T16:35:39Z-
dc.date.issued1997-
dc.identifier.citationAbsence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy. 1997, 76 (12):1546-9 Br. J. Canceren
dc.identifier.issn0007-0920-
dc.identifier.pmid9413938-
dc.identifier.urihttp://hdl.handle.net/10541/94728-
dc.description.abstractThe effectiveness of cancer radiotherapy is compromised by the small proportion (approximately 5%) of patients who sustain severe normal tissue damage after standard radiotherapy treatments. Predictive tests are required to identify these highly radiosensitive cases. Patients with the rare, recessively inherited, cancer-prone syndrome ataxia-telangiectasia (A-T) sustain extremely severe normal tissue necrosis after radiotherapy and their cultured cells are also highly radiosensitive. Clinically normal carriers (heterozygotes) of the A-T gene have an increased risk of breast cancer, account for approximately 4% of all breast cancer cases and show a modest increase in cellular radiosensitivity in vitro. It has been suggested that a substantial proportion of highly radiosensitive (HR) breast cancer patients may be A-T heterozygotes, and that screening for mutations in the A-T gene could be used as a predictive test. We have tested this hypothesis in a group of cancer patients who showed adverse reactions to radiotherapy. Sixteen HR breast cancer patients showing mainly acute reactions (and seven HR patients with other cancers) were tested for ATM mutations using the restriction endonuclease fingerprinting assay. No mutations typical of those found in obligate A-T heterozygotes were detected. If the estimate that 4% of breast cancer cases are A-T gene carriers is correct, then ATM mutations do not confer clinical radiosensitivity. These early results suggest that screening for ATM mutations in cancer patients may not be of value in predicting adverse reactions.en
dc.language.isoenen
dc.subjectBreast Canceren
dc.subjectTumour Suppressor Proteinsen
dc.subject.meshBreast Neoplasms-
dc.subject.meshCell Cycle Proteins-
dc.subject.meshDNA-Binding Proteins-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshMutation-
dc.subject.meshProtein-Serine-Threonine Kinases-
dc.subject.meshProteins-
dc.subject.meshTumor Suppressor Proteins-
dc.titleAbsence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital (NHS) Trust, Manchester, UK.en
dc.identifier.journalBritish Journal of Canceren

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