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Treating patients with ATM mutations
Started by madchemist89
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Several, breast, no issues outside the norm.
Here is a nice paper that discusses ATM as well as other mutations that one may encounter.
In the Red Journal just this month:
ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations
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 effort should be made to minimize the contralateral breast dose. However, the inconsistency of published data limits precise recommendations, magnifying the need for further prospective studies and the development of a centralized database cataloging RT outcomes and genetic status.
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I’ve treated several breast patients. At one point nccn guidelines had a section about atm in the discussion portion for breast cancer.
at that time they advised that beast conservation with radiation was ok but they recommended standard fractionation
So this is talking about heterozygotes, right?
Also done ATM breast heterozygotes, also without issue.
Heterozygotes no issue IMO.
I found most of the breast literature, but I'm treating a patient with a spine met. My concern is increased risk of spinal cord myelopathy. My plan is 30/10 and reduce cord dose as much as possible. Thanks for all the responses! I appreciate it.
I mean, you can't be much more gentle than that! I would be very surprised if you updated us next year saying the patient developed myelopathy...
I don't have good knowledge on that, but I thought that ATM mutations prevent repair of double-stang-breaks. Which is why, we don't treat patients with ataxia-telengiectasia.
Is myelopathy caused by double-strang breaks?
