Monoallelic germline<i>ATM</i>mutation and organising pneumonia induced by radiation therapy to the breast

Cordier, Jean-François; Cottin, Vincent; Lazor, Romain; Stoppa‐Lyonnet, Dominique

doi:10.1183/13993003.01842-2015

Cited by 7 publications

(8 citation statements)

References 14 publications

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“…As another explanation of the pathogenesis of RIOP, mutations in the ATM (ataxia telangiectasia mutated) gene were proposed [37]. The ATM gene is a key molecule to repair DNA double-strand breaks whose mutation brings hypersensitivity to irradiation [38] and predisposes to cancer [39].…”

Section: Pathogenesis and Epidemiologymentioning

confidence: 99%

“…The ATM gene is a key molecule to repair DNA double-strand breaks whose mutation brings hypersensitivity to irradiation [38] and predisposes to cancer [39]. A patient with RIOP who was also diagnosed to have monoallelic germline ATM mutation was reported [37]. Interestingly, the frequency of ATM mutation carriers among women affected with breast cancer has been estimated to be 2.04% [40], similar to that with RIOP.…”

Section: Pathogenesis and Epidemiologymentioning

confidence: 99%

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Radiation-Induced Organizing Pneumonia: A Characteristic Disease that Requires Symptom-Oriented Management

Otani¹,

Seo²,

Ogawa³

2017

IJMS

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Radiation-induced organizing pneumonia (RIOP) is an inflammatory lung disease that is occasionally observed after irradiation to the breast. It is a type of secondary organizing pneumonia that is characterized by infiltrates outside the irradiated volume that are sometimes migratory. Corticosteroids work acutely, but relapse of pneumonia is often experienced. Management of RIOP should simply be symptom-oriented, and the use of corticosteroids should be limited to severe symptoms from the perspective not only of cost-effectiveness but also of cancer treatment. Once steroid therapy is started, it takes a long time to stop it due to frequent relapses. We review RIOP from the perspective of its diagnosis, epidemiology, molecular pathogenesis, and patient management.

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Section: Pathogenesis and Epidemiologymentioning

confidence: 99%

Section: Pathogenesis and Epidemiologymentioning

confidence: 99%

Radiation-Induced Organizing Pneumonia: A Characteristic Disease that Requires Symptom-Oriented Management

Otani¹,

Seo²,

Ogawa³

2017

IJMS

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“…19 The description of BOOP occurring in a patient who carried an ATM mutation showed that BOOP may be related to this genetic mutation. 17,23 In addition, the subjects described in the 2014 report 1 tested negative for the ATM mutation. It may be prudent for patients with breast cancer contemplating radiotherapy to be questioned about their family history for ATM-related disorders because ATM increases the risk of breast cancer, [18][19][20][21] and genetic testing for this mutation can be used as a guide for radiotherapy treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Jacobs et al 13 Bissoli et al 14 Inoue et al 15 Inoue et al 15 Nogi et al 16 Cordier Women with the ATM mutation have a higher risk of breast cancer, and patients with ataxia telangiectasia are unusually sensitive to therapeutic doses of radiation. [18][19][20][21] Cordier et al 17 speculated that this patient may have developed BOOP due to the radio-sensitivity associated with the ATM gene mutation. This review reports an update of the author's (EK) personal experience with breast cancer postradiotherapy BOOP.…”

Section: Patient Case Studiesmentioning

confidence: 95%

“…Cordier et al 17 performed genetic testing in a 68-y-old woman who had invasive left breast ductal carcinoma that was treated with lumpectomy and radiation therapy. Two months after radiation was completed, she developed bilateral ground-glass patchy infiltrates with a reversed halo sign and pleural-based triangle infiltrates with air bronchograms.…”

Section: Patient Case Studiesmentioning

confidence: 99%

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Post-Breast Cancer Radiotherapy Bronchiolitis Obliterans Organizing Pneumonia

Epler

Kelly²

2019

Respir Care

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BACKGROUND: Radiotherapy for breast cancer has been implicated in the development of bronchiolitis obliterans organizing pneumonia (BOOP). Patients may be asymptomatic or may have pulmonary and constitutional symptoms that are moderate or severe. Postradiotherapy BOOP usually develops during the 12 months after completion of radiotherapy and is characterized by ground-glass opacities in the radiation-exposed lung and frequently in the non-irradiated lung. METHODS: An updated literature search and review was performed to update the systematic review we conducted in 2014. Ten new publications were identified: 2 Japanese epidemiological studies, 1 Japanese case series study, 6 case reports, and 1 review article. RESULTS: The incidence of postradiotherapy BOOP was 1.4% in both Japanese epidemiological studies. Risk factors included increasing age, cigarette smoking, and increasing central lung distance. The case reports included 7 women who had breast cancer postradiation BOOP and 1 woman who had an ataxia telangiectasia mutated (ATM) gene mutation, which may increase radiation sensitivity. CONCLUSION: Postradiotherapy BOOP in women with breast cancer occurs at a rate of 1.0-3.0% and may occur in women with immune system dysfunction and genetic mutations.

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ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations

McDuff

Bellon

Shannon

et al. 2021

International Journal of Radiation Oncology*Biology*Physics

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Purpose: Advances in germline genetic testing have led to a surge in identification of ataxia-telangiectasia mutated (ATM ) variant carriers among breast cancer patients, raising numerous questions regarding use of breast radiation therapy (RT) in this population. Methods: A literature search using PubMed identified articles assessing association(s) between the germline ATM variant status and the risk of toxicity after breast RT. An expert panel of breast radiation oncologists, genetic counselors, and basic scientists convened to review the association between ATM variants and radiation-induced toxicity or secondary malignancy risk and to determine any impact on breast RT recommendations. Results: Carriers of pathogenic variants in ATM have a 2-to 4-fold increased risk for developing breast cancer. ATM variants do not consistently increase risks of toxicities after RT, except possibly among patients with the single nucleotide variant c5557G>A (rs1801516), in whom a small increased risk for the development of both acute and late radiation effects has been identified. In most breast cancer patients with ATM variants, the excess 5-year absolute risk of developing a secondary contralateral breast cancer (CBC) after radiation is extremely low. The exception is in women younger than 45 years old with deleterious rare ATM missense variants, who may be at higher risk for developing a radiation-induced CBC over time. Conclusions: Adjuvant radiation is safe for most breast cancer patients who harbor ATM variants. The possible exceptions are patients with the variant c5557G>A (rs1801516) and patients younger than 45 years old with certain rare deleterious ATM variants, who may be at higher risk for developing CBC. These latter patients should be counseled regarding this potential risk, and every

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Monoallelic germlineATMmutation and organising pneumonia induced by radiation therapy to the breast

Cited by 7 publications

References 14 publications

Radiation-Induced Organizing Pneumonia: A Characteristic Disease that Requires Symptom-Oriented Management

Radiation-Induced Organizing Pneumonia: A Characteristic Disease that Requires Symptom-Oriented Management

Post-Breast Cancer Radiotherapy Bronchiolitis Obliterans Organizing Pneumonia

ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations

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