Giacomazzi, Juliana Graudenz, Marcia S Osorio, Cynthia A B T Koehler-Santos, Patricia Palmero, Edenir I Zagonel-Oliveira, Marcelo Michelli, Rodrigo A D Scapulatempo Neto, Cristovam Fernandes, Gabriela C Achatz, Maria Isabel W S Martel-Planche, Ghyslaine Soares, Fernando A Caleffi, Maira Goldim, Jose Roberto Hainaut, Pierre Camey, Suzi A Ashton-Prolla, Patricia eng Research Support, Non-U.S. Gov't 2014/06/18 06:00 PLoS One. 2014 Jun 17;9(6):e99893. doi: 10.1371/journal.pone.0099893. eCollection 2014. ; International audience ; Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%-11.7%) and 70/815 (8.6%, CI95%: 6.8%-10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%-15.8%) than at age 55 or older (5.1%, CI95%: 3.2%-7.7%), p