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Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer

Fertility and Sterility Aug 03, 2019

Ruddy KJ, Schaid DJ, Partridge AH, et al. - In young women with breast cancer, researchers conducted a genome-wide association study to assess the role of genetics in the risk of chemotherapy-related amenorrhea (CRA). They included 1,168 eligible premenopausal women (≤ 45 years) from three trials. Among these, menses never restarted following chemotherapy in 457 (39%) patients. Increased risk of CRA was noted in correlation with older age, tamoxifen use, and node-negative disease. Adjusting for these, postchemotherapy menstruation was noted to be correlated with rs147451859, in an intron of PPCDC (phosphopantothenoylcysteine decarboxylase) and rs17587029, located 5′ upstream of RPS20P11 (ribosomal protein S20 pseudogene 11). These findings suggest the contribution of genetic variation to the risk of CRA. In young women with cancer, better prediction of CRA is valuable for informing reproductive and treatment decision making.

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