Ausgabe 1/2023
Inhalt (27 Artikel)
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer
- Open Access
- Review
Olfat Ahmad, Asta Försti
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
- Open Access
- Case Report
Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez, Hiart Maortua, Almudena Callejo, Abigail Ruiz de Lobera, Alberto Muñoz, Nagore Miñambres, Pablo Jiménez-Labaig
Are population level familial risks and germline genetics meeting each other?
- Open Access
- Review
Kari Hemminki, Xinjun Li, Asta Försti, Charis Eng
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience
- Open Access
- Research
Elina Sivina, Lubova Blumberga, Gunta Purkalne, Arvids Irmejs
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
- Open Access
- Research
Zewen Zhang, Nur Diana Binte Ishak, Frances Victoria Fajardo Que, Zi Yang Chua, Sock Hoai Chan, Jianbang Chiang, Joanne Ngeow Yuen Yie
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic
- Open Access
- Research
Samantha Williams, Jessica E. Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J. Wangensteen, Kathleen Valverde, Nadim Mahmud, Bryson W. Katona
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
- Open Access
- Comment
Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen, Anne Marie Jelsig
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma
- Open Access
- Case Report
Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C. Frühwald
Genetic testing for hereditary breast cancer in Poland: 1998–2022
- Open Access
- Comment
Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod, Jan Lubinski
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
- Open Access
- Review
Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister, Christian P. Schaaf
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome
- Open Access
- Review
M. E. Papadopulos, J. P. Plazzer, F. A. Macrae
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer
- Open Access
- Case Report
Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolova
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan
- Open Access
- Research
Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi, Hiroya Takeuchi
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome
- Open Access
- Research
Kaylee A. Underkofler, Martha H. Thomas, Christina J. Taylor, Christa L. Mazur, Sarah H. Erickson, Kari L. Ring
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
- Open Access
- Case Report
M. F. Broekema, E. J. W. Redeker, M. T. Uiterwaal, L. P. van Hest
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families
- Open Access
- Case Report
Tracy Lowe, Jane DeLuca, Ludovico Abenavoli, Luigi Boccuto
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
- Open Access
- Case Report
Bin-bin Li, Hui Zheng, Yi-Dan Lou, Wen-Wei Zhang, Song Zheng
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
- Open Access
- Review
Pal Møller, Toni T. Seppälä, Aysel Ahadova, Emma J. Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Möslein, Ingrid Winship, Sanne W. Bajwa-ten Broeke, Kelly E. Kohut, Neil Ryan, Peter Bauerfeind, Laura E. Thomas, D. Gareth Evans, Stefan Aretz, Rolf H. Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio, Naim Abu-Freha, Levi Zohar, Luigi Laghi, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Carlos Vaccaro, Adriana Della Valle, Benedito Mauro Rossi, Leandro Apolinário da Silva, Ivana Lucia de Oliveira Nascimento, Norma Teresa Rossi, Tadeusz Dębniak, Jukka-Pekka Mecklin, Inge Bernstein, Annika Lindblom, Lone Sunde, Sigve Nakken, Vincent Heuveline, John Burn, Eivind Hovig, Matthias Kloor, Julian R. Sampson, Mev Dominguez-Valentin
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
- Open Access
- Research
Suguru Oka, Shinji Urakami, Kiichi Hagiwara, Michikata Hayashida, Kazushige Sakaguchi, Yuji Miura, Naoko Inoshita, Masami Arai
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
- Open Access
- Review
Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
- Open Access
- Research
Noor Muhammad, Ayesha Azeem, Shumaila Arif, Humaira Naeemi, Iqra Masood, Usman Hassan, Bushra Ijaz, Faisal Hanif, Aamir Ali Syed, Muhammed Aasim Yusuf, Muhammad Usman Rashid
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience
- Open Access
- Case Report
Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagayasu
“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
- Open Access
- Research
Jennifer L. Schneider, Alison J. Firemark, Sara Gille, James Davis, Pamala A. Pawloski, Su-Ying Liang, Mara M. Epstein, Jan Lowery, Christine Y. Lu, Ravi N. Sharaf, Andrea N. Burnett-Hartman, Victoria Schlieder, Zachary M. Salvati, Deborah Cragun, Alanna Kulchak Rahm, Jessica Ezzell Hunter
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
- Open Access
- Research
Hiroko Nakahira, Yoji Takeuchi, Yusaku Shimamoto, Shingo Ishiguro, Hiroshi Yunokizaki, Yasumasa Ezoe, Fumie Fujisawa, Ryu Ishihara, Tetsuji Takayama, Teruhiko Yoshida, Michihiro Mutoh, Hideki Ishikawa
Choices for cancer prevention for women with a BRCA1 mutation? a personal view
- Open Access
- Comment
Steven A. Narod
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
- Open Access
- Review
Kimberley Cao, John-Paul Plazzer, Finlay Macrae
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
- Open Access
- Research
Ryan Mooney, Yelena P. Wu, Kelsey Kehoe, Molly Volkmar, Wendy Kohlmann, Cathryn Koptiuch, Kimberly A Kaphingst
