Ausgabe 1/2023
Inhalt (15 Artikel)
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups
- Open Access
- Original Article
Vera M. Witjes, Jozé C. C. Braspenning, Nicoline Hoogerbrugge, Yvonne H. C. M. Smolders, Dorien M. A. Hermkens, Marian J. E. Mourits, Marjolijn J. L. Ligtenberg, Margreet G. E. M. Ausems, Joanne A. de Hullu
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility
- Open Access
- Short Communication
Susanna Koivuluoma, Sandra Vorimo, Tiina M. Mattila, Anna Tervasmäki, Timo Kumpula, Outi Kuismin, Robert Winqvist, Jukka Moilanen, Tuomo Mantere, Katri Pylkäs
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations
- Original Article
G. A. Yanus, E. L. Savonevich, A. P. Sokolenko, A. A. Romanko, V. I. Ni, E. Kh. Bakaeva, O. A. Gorustovich, I. V. Bizin, E. N. Imyanitov
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan
- Original Article
Muhammad Usman Rashid, Noor Muhammad, Umara Shehzad, Faiz Ali Khan, Asif Loya, Ute Hamann
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction
- COVID-19
- Original Article
Silvia Costanzo, Simona De Summa, Leonarda Maurmo, Maria Digennaro, Margherita Patruno, Angelo Paradiso
A large family with MSH3-related polyposis
- Open Access
- Short Communication
Arthur S. Aelvoet, Daniël R. Hoekman, Bert J. W. Redeker, Jitske Weegenaar, Evelien Dekker, Carel J. M. van Noesel, Floor A. M. Duijkers
Prevalence and risk factors of barrett’s esophagus in lynch syndrome
- Original Article
Natalie Farha, Ruishen Lyu, David Liska, Amit Bhatt, Carole Macaron, Carol A. Burke
Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients
- Open Access
- Review
Mingzhu Sun, Jayne Moquet, Michele Ellender, Simon Bouffler, Christophe Badie, Rachel Baldwin-Cleland, Kevin Monahan, Andrew Latchford, David Lloyd, Susan Clark, Nicola A. Anyamene, Elizabeth Ainsbury, David Burling
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions
- Open Access
- Original Article
Jennifer Vazzano, Jewel Tomlinson, Peter P. Stanich, Rachel Pearlman, Matthew F. Kalady, Wei Chen, Heather Hampel, Wendy L. Frankel
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature
- Short Communication
Jessica El Halabi, Lisa LaGuardia, R. Matthew Walsh, Choon Hyuck David Kwon, K. V. Narayanan Menon, David Liska, Carol A. Burke
Endoscopic management of familial adenomatous polyposis targeting colorectal lesions greater than 5 mm in size: a single-center retrospective study
- Original Article
Tatsuro Murano, Hiroaki Ikematsu, Kensuke Shinmura, Kei Okumura, Takeshi Kuwata, Mineko Ushiama, Teruhiko Yoshida, Kenji Takashima, Keiichiro Nakajo, Tomohiro Kadota, Yusuke Yoda, Yasuhiro Oono, Tomonori Yano
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
- Original Article
Mitchell L. Ramsey, Jewel Tomlinson, Rachel Pearlman, Laith Abushahin, Amber Aeilts, Hui-Zi Chen, Yan Chen, Ashley Compton, Rifat Elkhatib, Levi Geiger, John Hays, Joanne Jeter, Ning Jin, Pannaga Malalur, Sameek Roychowdhury, Jessica Ruple, Jennifer Prebish, Peter P. Stanich, Heather Hampel
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome
- Original Article
David Humberto Marmolejo Castañeda, Mara Cruellas Lapeña, Estela Carrasco López, Gloria Aparicio Español, Claudia Valverde Morales, Adrià López-Fernández, Eduard Pérez Ballesteros, Sara Torres-Esquius, Mónica Pardo Muñoz, Judith Balmaña Gelpi
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes
- Open Access
- Original Article
Sietse M. Aukema, Selina Glaser, Mari F. C. M. van den Hout, Sonja Dahlum, Marinus J. Blok, Morten Hillmer, Julia Kolarova, Raf Sciot, Dina A. Schott, Reiner Siebert, Constance T. R. M. Stumpel
Preimplantation genetic testing in patients with genetic susceptibility to cancer
- Short Communication
Marie-Charlotte Villy, Nelly Frydman, Céline Moutou, Gaëlle Thierry, Jade Raad, Chrystelle Colas, Julie Steffann, Julie Metras, Nathalie Chabbert-Buffet, Yann Parc, Stéphane Richard, Patrick R. Benusiglio