Fig. 4: Comparison of cancer-related phenotypes between the Clinical-NF1, PV-Only, and Tested-Negative groups in the Ambry cohort.

For all panels, statistically significant differences between groups are labeled. In all cases, 2-sided linear (for continuous response variables) or 2-sided logistic regression (for categorical response variables) models were adjusted for patient age. Unadjusted p values are shown. A Percent of patients within each group (Clinical-NF1 in green, PV-Only in orange, and Tested-Negative in gray) reporting a personal history of malignancy. B Mean number of primary malignancies, per patient, across the three groups; Clinical NF1 (n = 152), PV-Only (n = 129) and Tested Negative (n = 31,599). Error bars represent standard deviation. C Comparison of age at first cancer diagnosis between each group. Box plots illustrate the median, first and third quartiles, minimum, and maximum for each group, Clinical NF1 (n = 152), PV-Only (n = 129), and Tested Negative (n = 31,599). For the Clincal-NF1 and PV-Only group, individual data points are shown. PV-Only individuals with mosaic NF1 PVs are shown in red. D Percent of individuals, per group, affected by each of 14 different malignancies. Note that for 28 independent comparisons, a strict Bonferroni-corrected significance threshold of 0.0018 should be considered. E Mean age at first breast cancer (Clinical NF1 n = 84; PV-Only n = 74; Tested Negative n = 15,466) and ovarian cancer (Clinical NF1 n = 9; PV-Only n = 13; Tested Negative n = 1430) diagnosis across the three groups. Error bars represent standard deviation. F Incidence, across the three groups, of different breast cancer receptor statuses among patients for whom a diagnosis of breast cancer was reported and sufficient receptor status information was provided. HR hormone receptor, HER2 human epidermal growth factor receptor 2, TNBC triple negative breast cancer.