Breast cancer phenotype in women with TP53 germ-line mutations: An LFS consortium effort.

• DOI: 10.1200/jco.2011.29.15_suppl.1519
• Publication Date: 2017-02-23T13:58:03Z
• Authors: S. Masciari; D. Dillon; M. G. Dick; M. E. Robson; J. N. Weitzel; J. M. Ford; J. Balmaña; S. B. Gruber; D. Euhus; J. E. Garber
• Keywords: Male Breast Cancer; Histology

1519 Background: Breast cancer (BC) is the most common tumor in women with germ-line TP53 mutations 49% risk by age 60, and significant before 40. The histopathological profile of BC carriers has recently been described small cohorts showing a higher likelihood HER2+ (Wilson et al. J Med Genet.Nov;47:771-774; Melhem-Bertrandt ARK 2010 San Antonio Cancer Symp; Poster Session 3). We expanded our original cohort 17 Li Fraumeni syndrome (LFS), whom we had complete markers only 9 cases (Masciari S JCO, 2006 ASCO Annual Meeting Proc, abstr 10031), to characterize features LFS. Methods: identified 15 from TP53mutations LFS registry at Dana-Farber Institute 14 collaborators consortium. Information on histology, hormone receptor HER2 status was collected medical records. Central histology review ongoing data will be available shortly, including 13 additional cases. Results: 7 DCIS 22 invasive ductal carcinoma (IDC) 26 women, 1 both 2 bilateral IDC. median IDC 31 years (range 22-46). 64% were high grade, (77%) ER+ 16 (72%) PR+. 68% 71% HER2+. 45% ER+/PR+/HER2+; other ER/PR/HER2 combinations observed (Table). Conclusions: This largest collection characterized subtype reported Most are positive; frequency also increased. These findings suggest that modern treatments may improve outcomes for LFS-associated BC. It important identify them permit consideration radiation issues primary malignancies. Histopathologic characteristics N PR+ ER+/PR+ ER-/PR- ER+/PR- HER2- 4 3 5 0 10 6 Total 29 21 19 20 11 8