Are CHEK2 mutations a contraindication for breast conservation therapy with lumpectomy + RT?
Should patients with moderate penetrance pathogenic variants be managed similar to BRCA patients and consider risk reducing contralateral mastectomy?
Answer from: Medical Oncologist at Academic Institution
Among women with early-stage breast cancer and moderate penetrance breast cancer susceptibility genes, such as CHEK2, decisions about breast surgery are largely based upon personal preferences. According to data from large population-based studies, women with CHEK2 pathogenic variants have about a 2...
Answer from: Radiation Oncologist at Community Practice
The goal of bilateral mastectomy in BRCA carriers is primarily prevention of future breast cancers, not necesarily the treatment of the current primary. As such, I don't think its appropriate to consider BRCA a contraindication to breast conservation. Just that the treatment modality for ...
Answer from: Radiation Oncologist at Community Practice
The CHEk2 mutation is picked up in a minority of patients who have had a panel test done for breast cancer familail risk assessment. This mutations needs to be interpreted with respect to family history, as risk of breast cancer is function of family history. In women with strong family history and ...
Comments
Radiation Oncologist at Varian Medical Systems/Allegheny health network https://www.redjournal.org/article/S0360-3016(21)0...
Medical Oncologist at Memorial Sloan Kettering Cancer Center Thanks. These data are somewhat reassuring but imp...
Answer from: Medical Oncologist at Academic Institution
I would not consider a pathogenic variant in a moderate penetrance gene to be a contraindication to breast conservation. There are no data to suggest that either ipsilateral recurrence or contralateral new cancer rates are sufficiently high to mandate mastectomy. In fact, many women who have moderat...