Ausgabe 1/2021
Inhalt (49 Artikel)
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
- Open Access
- Case report
Ofelia Cruz, Victoria Caloretti, Hector Salvador, Veronica Celis, Vicente Santa-Maria, Andrés Morales La Madrid, Mariona Suñol, Patricia Puerta, Jordi Muchart, Lucas Krauel, Cinzia Lavarino
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine
- Open Access
- Case report
Tatiana N. Sokolova, Valeriy V. Breder, Irina S. Shumskaya, Evgeny N. Suspitsin, Svetlana N. Aleksakhina, Grigoriy A. Yanus, Vladislav I. Tiurin, Alexandr O. Ivantsov, Barbara Vona, Grigoriy A. Raskin, Sergey V. Gamajunov, Evgeny N. Imyanitov
Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review
- Open Access
- Case report
Michiko Yamashita, Yoshiaki Kamei, Akari Murakami, Erina Ozaki, Kumiko Okujima, Kana Takemoto, Megumi Takaoka, Daiki Tsukamoto, Erina Kusakabe, Tomoyuki Shidahara, Haruna Noda, Reina Aoki, Kana Taguchi, Kanako Nishiyama, Mariko Eguchi, Yasutsugu Takada
Correction to: Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
- Open Access
- Correction
Muhammad Usman Rashid, Noor Muhammad, Faiz Ali Khan, Umara Shehzad, Humaira Naeemi, Naila Malkani, Ute Hamann
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
- Open Access
- Case report
Kodai Abe, Arisa Ueki, Yusaku Urakawa, Minoru Kitago, Tomoko Yoshihama, Yoshiko Nanki, Yuko Kitagawa, Daisuke Aoki, Kenjiro Kosaki, Akira Hirasawa
Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population
- Open Access
- Research
Elżbieta Złowocka-Perłowska, Tadeusz Dębniak, Marcin Słojewski, Artur Lemiński, Michał Soczawa, Thierry van de Wetering, Joanna Trubicka, Wojciech Kluźniak, Dominika Wokołorczyk, Cezary Cybulski, Jan Lubiński
Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review
- Open Access
- Case report
Tong Xie, Qin Feng, Zhongwu Li, Ming Lu, Jian Li, Analyn Lizaso, Jianxing Xiang, Lu Zhang, Lin Shen, Zhi Peng
Advanced adenomas may be a red flag for hereditary cancer syndromes
- Open Access
- Research
Swati G. Patel, Heather Hampel, Derek Smith, Dexiang Gao, Myles Cockburn, Fay Kastrinos
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences
- Open Access
- Research
Mary E. Velthuizen, Rob B. van der Luijt, Beja J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker, Margreet G. E. M. Ausems
A rare large duplication of MLH1 identified in Lynch syndrome
- Open Access
- Research
Abhishek Kumar, Nagarajan Paramasivam, Obul Reddy Bandapalli, Matthias Schlesner, Tianhui Chen, Rolf Sijmons, Dagmara Dymerska, Katarzyna Golebiewska, Magdalena Kuswik, Jan Lubinski, Kari Hemminki, Asta Försti
A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review
- Open Access
- Research
P. Loza, A. Irmejs, Z. Daneberga, E. Miklasevics, E. Berga-Svitina, S. Subatniece, J. Maksimenko, G. Trofimovics, E. Tauvena, S. Ukleikins, J. Gardovskis
Novel PHOX2B germline mutation in childhood medulloblastoma: a case report
- Open Access
- Case report
Caiping Ke, Xiaoshun Shi, Allen Menglin Chen, Chaoming Li, Bifeng Jiang, Kailing Huang, Zhouxia Zheng, Yanhui Liu, Zhuona Chen, Yingjun Luo, Huaming Lin, Jiexia Zhang
BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update
- Open Access
- Research
Alena Savanevich, Olgierd Ashuryk, Cezary Cybulski, Jan Lubiński, Jacek Gronwald
Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin
- Open Access
- Research
Tatiana V. Gorodnova, Anna P. Sokolenko, Khristina B. Kotiv, Tatiana N. Sokolova, Alexandr O. Ivantsov, Konstantin D. Guseynov, Ekaterina A. Nekrasova, Olga A. Smirnova, Igor V. Berlev, Evgeny N. Imyanitov
Clinical challenges in interpreting multiple pathogenic mutations in single patients
- Open Access
- Case report
Christa Slaught, Elizabeth G. Berry, Lindsay Bacik, Alison H. Skalet, George Anadiotis, Therese Tuohy, Sancy A. Leachman
Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC
- Open Access
- Research
Zheyuan Xu, Yang Wang, Lan Wang, Fengxian Cui, Libin Zhang, Jian Xiong, Hao Peng
Risk of hematological malignancies in the families of patients treated for nodular lymphocyte-predominant Hodgkin lymphoma
- Open Access
- Research
Saad Akhtar, M. Shahzad Rauf, Amani Al-Kofide, Mahmoud A. Elshenawy, Ali Hassan Mushtaq, Irfan Maghfoor
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer
- Open Access
- Research
Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck, Ann-Sofie Backman
Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia
- Open Access
- Research
Lucie G. Hallenstein, Carol Sorensen, Lorraine Hodgson, Shelly Wen, Justin Westhuyzen, Carmen Hansen, Andrew T. J. Last, Julan V. Amalaseelan, Shehnarz Salindera, William Ross, Allan D. Spigelman, Thomas P. Shakespeare, Noel J. Aherne
Clinical implementation of an oncology‐specific family health history risk assessment tool
- Open Access
- Research
Si Ming Fung, R. Ryanne Wu, Rachel A. Myers, Jasper Goh, Geoffrey S. Ginsburg, David Matchar, Lori A. Orlando, Joanne Ngeow
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition
- Open Access
- Review
Sock Hoai Chan, Jianbang Chiang, Joanne Ngeow
Should the BCRA1/2-mutations healthy carriers be valid candidates for hematopoietic stem cell donation?
- Open Access
- Review
Alberto Fresa, Simona Sica
Massive parallel sequencing in a family with rectal cancer
- Open Access
- Research
Karin Wallander, Jessada Thutkawkorapin, Ellika Sahlin, Annika Lindblom, Kristina Lagerstedt-Robinson
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice
- Open Access
- Research
Bettina Meiser, Rajneesh Kaur, April Morrow, Michelle Peate, W. K. Tim Wong, Emily McPike, Elisa Cops, Cassandra Nichols, Rachel Austin, Miriam Fine, Letitia Thrupp, Robyn Ward, Finlay Macrae, Janet E. Hiller, Alison H. Trainer, Gillian Mitchell, R. Susman, N. Pachter, A. Goodwin, P. James, L. Mascarenhas, C. Morton, S. Shanley, M. A. Young, L. Andrews, E. A. Morrow, K. Tucker, P. James, G. Lindeman, L. Mascarenhas, C. Morton, M. Field, A. Goodwin, M. Monnik, N. Poplawski, M. Delatycki, T. John, M. Harris, R. Kerr, B. Vora
CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC
- Open Access
- Research
T Connor, M McPhillips, M Hipwell, A Ziolkowski, C Oldmeadow, M Clapham, PG Pockney, E Lis, T Banasiewicz, A Pławski, RJ Scott
Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China
- Open Access
- Review
Min Zhang, Tianhui Chen
Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China
- Open Access
- Correction
Min Zhang, Tianhui Chen
A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review
- Open Access
- Case report
Youn-Joon Jung, Hye Ryoun Kim, Mi Kyung Kim, Eun-Ju Lee
Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?
- Open Access
- Research
Chun-Kai Liao, Yueh-Chen Lin, Yu-Jen Hsu, Yih-Jong Chern, Jeng-Fu You, Jy-Ming Chiang
Ultrasound guided needle biopsy of axilla to evaluate nodal metastasis after preoperative systemic therapy in cohort of 106 breast cancers enriched with BRCA1/2 pathogenic variant carriers
- Open Access
- Research
Baiba Līcīte, Arvīds Irmejs, Jeļena Maksimenko, Pēteris Loža, Genādijs Trofimovičs, Edvīns Miklaševičs, Jurijs Nazarovs, Māra Romanovska, Justīne Deičmane, Reinis Irmejs, Gunta Purkalne, Jānis Gardovskis
Evaluation and comparison of hereditary Cancer guidelines in the population
- Open Access
- Research
Jordon B. Ritchie, Cecelia Bellcross, Caitlin G. Allen, Lewis Frey, Heath Morrison, Joshua D. Schiffman, Brandon M. Welch
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature
- Open Access
- Case report
Leandro Jonata Carvalho Oliveira, Aline Bobato Lara Gongora, Fabiola Ambrosio Silveira Lima, Felipe Sales Nogueira Amorim Canedo, Carla Vanessa Quirino, Janina Pontes Pisani, Maria Isabel Achatz, Benedito Mauro Rossi
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
- Open Access
- Research
Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John, Alina Stoita
Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
- Open Access
- Case report
Makoto Nakagawa, Eisuke Kobayashi, Masayoshi Yamada, Tomoko Watanabe, Makoto Hirata, Noriko Tanabe, Mineko Ushiama, Hiromi Sakamoto, Chiaki Sato, Taisuke Mori, Akihiko Yoshida, Teruhiko Yoshida, Kokichi Sugano, Akira Kawai
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations
- Open Access
- Review
Zahra Meshkani, Ali Aboutorabi, Najmeh Moradi, Mostafa Langarizadeh, Ali Ghanbari Motlagh
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
- Open Access
- Correction
Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John, Alina Stoita
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome
- Open Access
- Research
Mari Kalamo, Johanna Mäenpää, Toni Seppälä, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Synnöve Staff
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline
- Open Access
- Review
Michelle Jacobson, Nadia Coakley, Marcus Bernardini, Kelly-Ann Branco, Laurie Elit, Sarah Ferguson, Raymond Kim
Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report
- Open Access
- Debate article
Suzanne C. O’Neill, Jada G. Hamilton, Claire C. Conley, Beth N. Peshkin, Rosalba Sacca, Glynnis A. McDonnell, Claudine Isaacs, Mark E. Robson, Kenneth P. Tercyak
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes
- Open Access
- Review
Anne Marie Jelsig, John Gásdal Karstensen, Niels Jespersen, Zohreh Ketabi, Charlotte Lautrup, Karina Rønlund, Lone Sunde, Karin Wadt, Ole Thorlacius-Ussing, Niels Qvist
Germline mutations among Polish patients with acute myeloid leukemia
- Open Access
- Research
Aneta Bąk, Katarzyna Skonieczka, Anna Jaśkowiec, Anna Junkiert-Czarnecka, Marta Heise, Maria Pilarska-Deltow, Stanisław Potoczek, Maria Czyżewska, Olga Haus
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis
- Open Access
- Research
Nicole den Elzen, Sharelle L. Joseland, Sibel Saya, Sowmya Jonnagadla, Joanne Isbister, Ingrid Winship, Daniel D. Buchanan
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report
- Open Access
- Case report
Alexander Puzik, Markus Uhl, Juri Ruf, Tilmann Schumacher, Udo Kontny
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review
- Open Access
- Review
A. Daniele, R. Divella, B. Pilato, S. Tommasi, P. Pasanisi, M. Patruno, M. Digennaro, C. Minoia, M. Dellino, S. Pisconti, P. Casamassima, E. Savino, A. V. Paradiso
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis
- Open Access
- Research
Karin Wallander, Håkan Thonberg, Daniel Nilsson, Emma Tham
Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis
- Open Access
- Correction
Karin Wallander, Håkan Thonberg, Daniel Nilsson, Emma Tham
Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report
- Open Access
- Case report
Mashu Futagawa, Hideki Yamamoto, Mariko Kochi, Yusaku Urakawa, Reimi Sogawa, Fumino Kato, Mika Okazawa-Sakai, Daisuke Ennishi, Katsunori Shinozaki, Hirofumi Inoue, Hiroyuki Yanai, Akira Hirasawa
Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients
- Open Access
- Research
Abdul Khalid Siraj, Tariq Masoodi, Rong Bu, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Maha Al-Rasheed, Dahish Ajarim, Asma Tulbah, Fouad Al-Dayel, Khawla Sami Al-Kuraya
