Ausgabe 1/2024
Inhalt (26 Artikel)
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report
- Open Access
- 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
- Open Access
- 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
- Open Access
- Case Report
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
- Open Access
- Review
Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Information needs of Lynch syndrome and BRCA 1/2 mutation carriers considering risk-reducing gynecological surgery: a qualitative study of the decision-making process
- Open Access
- Research
Lucy Zhao, Lorrie Lynch, Lua Eiriksson
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
- Open Access
- Research
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
- Open Access
- Research
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
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers
- Open Access
- Case Report
Annmarie Taheny, Haylie McSwaney, Julia Meade
Mutations in Helicobacter pylori infected patients with chronic gastritis, intestinal type of gastric cancer and familial gastric cancer
- Open Access
- Research
Andrzej Hnatyszyn, Marlena Szalata, Aleksandra Zielińska, Karolina Wielgus, Mikołaj Danielewski, Piotr Tomasz Hnatyszyn, Andrzej Pławski, Jarosław Walkowiak, Ryszard Słomski
Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey
- Open Access
- Research
Robert F. Power, Damien E. Doherty, Roberta Horgan, Pat Fahey, David J. Gallagher, Maeve A. Lowery, Karen A. Cadoo
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
- Open Access
- Case Report
Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Akiko Todaka, Ryo Ashida, Seiichiro Nishimura, Nobuhiro Kado, Satomi Higashigawa, Rina Harada, Eiko Ishihara, Yasue Horiuchi, Goichi Honda, Hirotsugu Kenmotsu, Masakuni Serizawa, Kenichi Urakami
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data
- Open Access
- Review
PA Skat-Rørdam, Y Kaya, N Qvist, TvO Hansen, TD Jensen, JG Karstensen, AM Jelsig
Benefits of osimertinib treat a lung adenocarcinoma patient with germline EGFR T790M, somatic EGFR 19-Del, TP53 and PIK3CA mutations
- Open Access
- Case Report
Yingxue Li, Guangqi Li, Zheng Zheng, Wenjuan Wen, Haihui Zhao, Xia Liu, Jiaping Xie, Lin Han
Universal testing in endometrial cancer in Sweden
- Open Access
- Research
Emil Andersson, Anne Keränen, Kristina Lagerstedt-Robinson, Sam Ghazi, Annika Lindblom, Emma Tham, Miriam Mints
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients
- Open Access
- Research
Ivane Javakhishvili, Kote Mardaleishvili, Maka Buleishvili, Maia Mantskava, Irakli Chkhikvishvili, Sophio Kalmakhelidze, Nina Kipiani, Tamar Sanikidze
Fear of cancer recurrence in breast cancer survivors carrying a BRCA1 or 2 genetic mutation : a cross-sectional study
- Open Access
- Research
Alexandra Michel, Michel Dorval, Jocelyne Chiquette, Josée Savard
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study
- Open Access
- Research
Lyman Lin, Victoria Beshay, Finlay Macrae
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
- Open Access
- Research
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers
- Open Access
- Research
Milena Matuszczak, Adam Kiljańczyk, Wojciech Marciniak, Róża Derkacz, Klaudia Stempa, Piotr Baszuk, Marta Bryśkiewicz, Cezary Cybulski, Tadeusz Dębniak, Gronwald Jacek, Tomasz Huzarski, Marcin Lener, Anna Jakubowska, Sandra Pietrzak, Marek Szwiec, Małgorzata Stawicka-Niełacna, Dariusz Godlewski, Artur Prusaczyk, Andrzej Jasiewicz, Tomasz Kluz, Joanna Tomiczek-Szwiec, Ewa Kilar-Kobierzycka, Monika Siołek, Renata Posmyk, Joanna Jarkiewicz-Tretyn, Rodney Scott, Steven Narod, Jan Lubiński
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
- Open Access
- Research
Wenche Sjursen, Hanne K. Hyldebrandt, Liss Anne S. Lavik, Bjørn Ivar Haukanes, Sarah Ariansen, Siri Briskemyr, Anna E. Sylvander, Marianne T. Haavind, Maren F. Olsen, Elin S. Røyset, Hildegunn Vetti, Astrid Stormorken, Eli Marie Grindedal
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review
- Open Access
- Review
L. van der Sluis, J.M. van Dieren, R.S. van der Post, T.M. Bisseling
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants
- Open Access
- Research
Raquel Salazar Saez, Miriam Zorrilla, Rosa Sánchez, Ana Cebollero, Isabel Manrique, Alfonso Martín, Leticia de Ávila, Alejandra Lacalle-Emborujo, Samuel Martin-Rodriguez, Iván Bernardo-González, Martina Alonso
Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing
- Open Access
- Research
Callan D. Russell, Ashley V. Daley, Durand R. Van Arnem, Andi V. Hila, Kiley J. Johnson, Jill N. Davies, Hanah S. Cytron, Kaylene J. Ready, Cary M. Armstrong, Mark E. Sylvester, Colleen A. Caleshu
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives
- Open Access
- Research
Johanna Samola Winnberg, Litika Vermani, Wen Liu, Veronika Soller, Jessada Thutkawkorapin, Mats Lindblad, Annika Lindblom
Breast cancer and ATM mutations: treatment implications
- Open Access
- Review
Marta Seca, Steven A. Narod
BRCA2 germline mutation carrier with five malignancies: a case report
- Open Access
- Case Report
Elena Su, Yann Christinat, Thomas McKee, Silvia Azzarello-Burri, Wolfram Jochum, Stefanie Fischer, Christian Rothermundt
