Ausgabe 1/2025
Inhalt (27 Artikel)
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report
- Open Access
- Case Report
Moriya Iwaizumi, Terumi Taniguchi, Risa Kojima, Harumo Osawa, Kyota Tatsuta, Mayu Sakata, Satoshi Osawa, Kiyotaka Kurachi, Ken Sugimoto
Clinician perspectives on designing and implementing a hereditary cancer transition clinic
- Open Access
- Research
Jazmine L. Gabriel, Victoria Schlieder, Jessica M. Goehringer, Tracey Leitzel, Emily Ann Sugrue, Sarah Zultevicz, Thomas W. Davis, Gemme Campbell-Salome, Katrina Romagnoli
Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences
- Open Access
- Review
Pål Møller, Aysel Ahadova, Matthias Kloor, Toni T. Seppälä, John Burn, Saskia Haupt, Finlay Macrae, Mev Dominguez-Valentin, Gabriela Möslein, Annika Lindblom, Lone sunde, Ingrid Winship, Gabriel Capella, Kevin Monahan, Daniel D. Buchanan, D. Gareth Evans, Eivind Hovig, Julian R. Sampson
Time to rethink colorectal cancer prevention strategies for lynch syndrome
- Open Access
- Editorial
Jan Lubinski, Rodney J. Scott
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
- Open Access
- Research
Anastasiia Danishevich, Daria Fedorova, Natalia Bodunova, Maria Makarova, Maria Byakhova, Anna Semenova, Vsevolod Galkin, Maria Litvinova, Sergey Nikolaev, Irina Efimova, Pavel Osinin, Tatyana Lisitsa, Anastasiya Khakhina, German Shipulin, Tatiana Nasedkina, Syuykum Shumilova, Oleg Gusev, Airat Bilyalov, Elena Shagimardanova, Leyla Shigapova, Marina Nemtsova, Olesya Sagaydak, Mary Woroncow, Saida Gadzhieva, Igor Khatkov
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review
- Open Access
- Case Report
Tian-Qi Zhang, Ji-Dong Cai, Cong Li, Yun Xu, Ye Xu
Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers
- Open Access
- Review
Kari Hemminki, Asta Försti, Otto Hemminki, Rodney J. Scott, Akseli Hemminki
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing
- Open Access
- Research
Tina Kerševan, Tina Kogovšek, Ana Blatnik, Mateja Krajc
High familial risks in some rare cancers may pinpoint to hidden germline genetics: focus on esophageal, stomach, small intestinal, testis, thyroid and bone cancers
- Open Access
- Review
Kari Hemminki, Otto Hemminki, Anni Koskinen, Akseli Hemminki, Asta Försti
Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer
- Open Access
- Review
Rodney J. Scott, Andrew Ziolkowski, David Mossman, Michael Hipwell
Prostate Cancer: genetics in practice now and in the future
- Open Access
- Review
Jana McHugh, Elizabeth Bancroft, Zsofia Kote-Jarai, Rosalind Eeles
Association between single nucleotide polymorphisms of DNA repair genes (BRCA1, BRCA2, and PALB2) and breast cancer incidence in a subset of Iranian population
- Open Access
- Research
Sepideh Jahangiri, Zahra Abdan, Massoud Houshmand, Ali Souroush, Mozaffar Aznab
Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?
- Open Access
- Research
Romy N Kuipers, Marissa F Burggraaff, Michiel HJ Maas, Dorien TJ van der Biessen – van Beek, Mariëtte CA van Kouwen, Tanya M Bisseling
Chemotherapy receipt in affected BRCA1/2 and PALB2 carriers with operable breast cancer: the impact of early detection and pre-diagnostic awareness on clinical outcomes and treatment
- Open Access
- Research
Stephanie M. Wong, Carla Apostolova, Amina Ferroum, Basmah Alhassan, Ipshita Prakash, Mark Basik, Karyne Martel, Sarkis Meterissian, David Fleiszer, Nora Wong, Michaela Bercovitch Sadinsky, Talia Malagon, Jean Francois Boileau, William D. Foulkes
Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants
- Open Access
- Review
Roksana Dwornik, Katarzyna Białkowska
Knowledge and perceptions of genetic testing for patients with breast cancer in Nigeria: a survey of healthcare providers
- Open Access
- Research
Funmilola Olanike Wuraola, Anna Dare, Jenine Ramruthan, Emma Reel, Anna T. Santiago, Folorunso Sharif, Agodirin Olayide, Nneka Sunday-Nweke, Olusegun Alatise, Tulin D. Cil
Translation, cultural adaptation, and pilot testing of the German cancer worry scale among BRCA1/2 pathogenic variant carriers in Austria
- Open Access
- Research
Anna-Maria Parger, Daniela Muhr, Christian F. Singer, Yen Y. Tan
BRCA1 promoter hypermethylation is not associated with germline variants in Polish breast cancer patients
- Open Access
- Research
Karolina Prajzendanc, Paweł Domagała, Jolanta Hybiak, Wojciech Kluźniak, Cezary Cybulski, Katarzyna Białkowska, Alicja Ogrodniczak, Janusz Ryś, Aleksandra Sejda, Marek Szwiec, Joanna Tomiczek-Szwiec, Tomasz Kluz, Roksana Dwornik, Dagmara Cylwik, Jacek Gronwald, Jan Lubiński, Anna Jakubowska
Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women
- Open Access
- Research
Sylwia Feszak, Wojciech Kluźniak, Igor Feszak, Magdalena Chady, Dominika Wokołorczyk, Klaudia Stempa, Helena Rudnicka, Katarzyna Gliniewicz, Anna Jakubowska, Marcin Lener, Maciej Czepukowicz, Tomasz Huzarski, Tadeusz Dębniak, Jacek Gronwald, Jan Lubiński, Cezary Cybulski
Medullary breast cancer and germline BRCA1 mutations: a possible criterion for genetic testing
- Open Access
- Review
Adriana I. Apostol, David Lim, Steven A. Narod
Genomic characterization of patients with colorectal cancer
- Open Access
- Research
Marwa Mahdouani, Drenushe Zhuri, Fulya Dusenkalkan, Hakan Gurkan, Sinem Yalcintepe
Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review
- Open Access
- Case Report
Wenche Sjursen, Eva Kathrine Svaasand, Bodil Gilde, Anuradha Ravi, Katinka Madtzog Korseth, Ashish Kumar Singh, Jostein Johansen, Olaug Kristin Rødningen, Sofie Geck Sevatdal, Siv Anita Hegre, Maren Fridtjofsen Olsen, Kristine Misund
Tumour spectrum, distinguishing features and management recommendations for NTHL1-associated tumour syndrome: a systematic review
- Open Access
- Review
Weilun Gao, Chuyi Liao, Daniel D. Buchanan, Finlay Macrae, Richarda M. de Voer
Molecular markers associated with elevated colorectal cancer risk: a mini review
- Open Access
- Review
Marcin Szuman, Marek Kazimierczyk, Natalia Grot, Marta Kaczmarek-Ryś, Alicja Kryszczyńska, Iga Dziechciowska, Monika Knaur, Andrzej Hnatyszyn, Szymon Hryhorowicz, Andrzej Pławski
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case
- Open Access
- Review
Natalia Grot, Marek Kazimierczyk, Marcin Szuman, Marta Kaczmarek-Ryś, Alicja Kryszczyńska, Iga Dziechciowska, Monika Knaur, Andrzej Hnatyszyn, Szymon Hryhorowicz, Andrzej Pławski
Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients
- Open Access
- Research
Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed Aasim Yusuf, Muhammad Usman Rashid
Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience
- Open Access
- Research
Mohammed A. Almuqbil, Maha Al Ammari, Nada S. Al Dhayyan, Seena Thomas Kaithathara, Mohamed Al Balwi
