BACKGROUND: Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. EXPERIMENTAL DESIGN: We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. RESULTS: Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference chi2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk. CONCLUSIONS: The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.
BACKGROUND: Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. EXPERIMENTAL DESIGN: We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. RESULTS: Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndromepatients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference chi2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk. CONCLUSIONS: The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.
Authors: Julian Carretero; Takeshi Shimamura; Klarisa Rikova; Autumn L Jackson; Matthew D Wilkerson; Christa L Borgman; Matthew S Buttarazzi; Benjamin A Sanofsky; Kate L McNamara; Kathleyn A Brandstetter; Zandra E Walton; Ting-Lei Gu; Jeffrey C Silva; Katherine Crosby; Geoffrey I Shapiro; Sauveur-Michel Maira; Hongbin Ji; Diego H Castrillon; Carla F Kim; Carlos García-Echeverría; Nabeel Bardeesy; Norman E Sharpless; Neil D Hayes; William Y Kim; Jeffrey A Engelman; Kwok-Kin Wong Journal: Cancer Cell Date: 2010-06-15 Impact factor: 31.743
Authors: Hailing Cheng; Pixu Liu; Fan Zhang; Erbo Xu; Lynn Symonds; Carolynn E Ohlson; Roderick T Bronson; Sauveur-Michel Maira; Emmanuelle Di Tomaso; Jane Li; Andrea P Myers; Lewis C Cantley; Gordon B Mills; Jean J Zhao Journal: Cancer Res Date: 2013-12-09 Impact factor: 12.701
Authors: Brandon Faubert; Emma E Vincent; Takla Griss; Bozena Samborska; Said Izreig; Robert U Svensson; Orval A Mamer; Daina Avizonis; David B Shackelford; Reuben J Shaw; Russell G Jones Journal: Proc Natl Acad Sci U S A Date: 2014-02-03 Impact factor: 11.205