Issue 1/2024
Content (7 Articles)
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report
Juan Pablo Arango-Ibañez, Luis Gabriel Parra-Lara, Ángela R. Zambrano, Lisa Ximena Rodríguez-Rojas
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report
Hua Yuan, Rong Zhang, Ning Li, Hongwen Yao
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu, Liuying Zhou
Current prospects of hereditary adrenal tumors: towards better clinical management
Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
Pål Møller, Saskia Haupt, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Lone Sunde, Toni Seppälä, John Burn, Inge Bernstein, Gabriel Capella, D. Gareth Evans, Annika Lindblom, Ingrid Winship, Finlay Macrae, Lior Katz, Ido Laish, Elez Vainer, Kevin Monahan, Elizabeth Half, Karoline Horisberger, Leandro Apolinário da Silva, Vincent Heuveline, Christina Therkildsen, Charlotte Lautrup, Louise L Klarskov, Giulia Martina Cavestro, Gabriela Möslein, Eivind Hovig, Mev Dominguez-Valentin
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations
Steven A. Narod, Kelly Metcalfe, Amy Finch, An-Wen Chan, Susan Randall Armel, Amber Aeilts, Andrea Eisen, Beth Karlan, Louise Bordeleau, Nadine Tung, William D. Foulkes, Susan L. Neuhausen, Charis Eng, Olufunmilayo Olopade, Dana Zakalik, Fergus Couch, Carey Cullinane, Tuya Pal, Ping Sun, Joanne Kotsopoulos, Aletta Poll, Raymond Kim, Robert Fruscio, Edmond Lemire, Kim Serfas, Kevin Sweet, Leigha Senter, Seema Panchal, Christine Elser, Joanne L. Blum, Daniel Rayson, Claudine Isaacs, Jeffrey Dungan, Stephanie Cohen