Ausgabe 1/2022
Inhalt (38 Artikel)
Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population
Elżbieta Złowocka-Perłowska, Aleksandra Tołoczko-Grabarek, Jan Lubiński
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
Lior Haim Katz, Rachel Gingold-Belfer, Elez Vainer, Shani Hegger, Ido Laish, Estela Derazne, Ilana Weintraub, Gili Reznick-Levi, Yael Goldberg, Zohar Levi, Shlomi Cohen, Elizabeth E. Half
Pregnancy after breast cancer in BRCA1/2 mutation carriers
Jelena Maksimenko, Arvīds Irmejs, Jānis Gardovskis
Progress of HOTAIR-microRNA in hepatocellular carcinoma
Bing-rong Wang, Dong-xia Chu, Mei-yu Cheng, Yu Jin, Hao-ge Luo, Na Li
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
Kortbeek Koen, De Putter Robin, Naert Eline
“It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing
Nina Strømsvik, Pernilla Olsson, Berit Gravdehaug, Hilde Lurås, Ellen Schlichting, Kjersti Jørgensen, Teresia Wangensteen, Tone Vamre, Cecilie Heramb, Lovise Mæhle, Eli Marie Grindedal
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system
Kristin R. Muessig, Jamilyn M. Zepp, Erin Keast, Elizabeth E. Shuster, Ana A. Reyes, Briana Arnold, Chalinya Ingphakorn, Marian J. Gilmore, Tia L. Kauffman, Jessica Ezzell Hunter, Sarah Knerr, Heather S. Feigelson, Katrina A. B. Goddard
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform
Saima Ahmed, Emmanuelle Lévesque, Rosalind Garland, Bartha Knoppers, Michel Dorval, Jacques Simard, Carmen G. Loiselle
Genetic susceptibility to hereditary non-medullary thyroid cancer
Tina Kamani, Parsa Charkhchi, Afshan Zahedi, Mohammad R. Akbari
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
Fan Zhang, Xiaohui Yu, Xiaoli Wang, Hua Shao
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor
Alicja Ogrodniczak, Janusz Menkiszak, Jacek Gronwald, Joanna Tomiczek-Szwiec, Marek Szwiec, Cezary Cybulski, Tadeusz Dębniak, Tomasz Huzarski, Aleksandra Tołoczko-Grabarek, Tomasz Byrski, Katarzyna Białkowska, Karolina Prajzendanc, Piotr Baszuk, Jan Lubiński, Anna Jakubowska
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland
Andrzej Jasiewicz, Helena Rudnicka, Wojciech Kluźniak, Wojciech Gronwald, Tomasz Kluz, Cezary Cybulski, Anna Jakubowska, Jan Lubiński, Jacek Gronwald
Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland
Elżbieta Złowocka-Perłowska, Aleksandra Tołoczko-Grabarek, Steven A. Narod, Jan Lubiński
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation
Sarah Sohyun Park, Aleksandra Uzelac, Joanne Kotsopoulos
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?
Jeanna M. McCuaig, Sarah E. Ferguson, Danielle Vicus, Karen Ott, Tracy L. Stockley, Raymond H. Kim, Kelly A. Metcalfe
CMMRD caused by PMS1 mutation in a sudanese consanguineous family
Reem S. Hamad, Muntaser E. Ibrahim
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system
Philip R. Crain, Jamilyn M. Zepp, Sara Gille, Lindsay Jenkins, Tia L. Kauffman, Elizabeth Shuster, Katrina A.B. Goddard, Benjamin S. Wilfond, Jessica Ezzell Hunter
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals
Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Yoon-Jung Kang, Emily He, Rebecca Venchiarutti, Leanna Titterton, Lucien Sankey, Amy Pearn, Cassandra Nichols, Skye McKay, Anne Hayward, Natasha Egoroff, Alexander Engel, Peter Gibbs, Annabel Goodwin, Marion Harris, James G Kench, Nicholas Pachter, Bonny Parkinson, Peter Pockney, Abiramy Ragunathan, Courtney Smyth, Michael Solomon, Daniel Steffens, James Wei Tatt Toh, Marina Wallace, Karen Canfell, Anthony Gill, Finlay Macrae, Kathy Tucker, Natalie Taylor
Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–2018
Mahip Acharya, Kristin K. Zorn, Melinda E. Simonson, Milan Bimali, Gary W. Moore, Cheng Peng, Bradley C. Martin
Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D. Spigelman, Cliff J. Meldrum, Susan Dooley, Rodney J. Scott
Beyond the pill: contraception and the prevention of hereditary ovarian cancer
Yue Yin Xia, Joanne Kotsopoulos
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews
Kathleen F. Mittendorf, Hannah S. Lewis, Devan M. Duenas, Donna J. Eubanks, Marian J. Gilmore, Katrina A. B. Goddard, Galen Joseph, Tia L. Kauffman, Stephanie A. Kraft, Nangel M. Lindberg, Ana A. Reyes, Elizabeth Shuster, Sapna Syngal, Chinedu Ukaegbu, Jamilyn M. Zepp, Benjamin S. Wilfond, Kathryn M. Porter
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore
Jerold Loh, Pei Yi Ong, Denise Li Meng Goh, Mark E. Puhaindran, Balamurugan A. Vellayappan, Samuel Guan Wei Ow, Gloria Chan, Soo-Chin Lee
Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan
Fizza Akbar, Zahraa Siddiqui, Muhammad Talha Waheed, Lubaina Ehsan, Syed Ibaad Ali, Hajra Wiquar, Azmina Tajuddin Valimohammed, Shaista Khan, Lubna Vohra, Sana Zeeshan, Yasmin Rashid, Munira Moosajee, Adnan Abdul Jabbar, Muhammad Nauman Zahir, Naila Zahid, Rufina Soomro, Najeeb Niamat Ullah, Imran Ahmad, Ghulam Haider, Uzair Ansari, Arjumand Rizvi, Arif Mehboobali, Abida Sattar, Salman Kirmani
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature
Lindsay Carlsson, Emily Thain, Brittany Gillies, Kelly Metcalfe
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer
Sowmya Jonnagadla, Sharelle L. Joseland, Sibel Saya, Nicole den Elzen, Joanne Isbister, Ingrid M. Winship, Daniel D. Buchanan
Unravelling genetic variants of a swedish family with high risk of prostate cancer
Serena Barilla, Annika Lindblom, Hafdis T. Helgadottir
BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer
Fatima Zahra El Ansari, Farah Jouali, Rim Fekkak, Joaira Bakkach, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita, Jamal Fekkak
Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers
Kelly E. Lloyd, Robbie Foy, Louise H. Hall, Lucy Ziegler, Sophie M. C. Green, Zainab F. Haider, David G. Taylor, Mairead MacKenzie, Samuel G. Smith
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome
Ibrahim H. Shah, Erin E. Salo-Mullen, Kimberly A. Amoroso, David Kelsen, Zsofia K. Stadler, Jada G. Hamilton
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer
B. Speight, E. Colvin, E. D. Epurescu, J. Drummond, S. Verhoef, M. Pereira, D. G. Evans, M. Tischkowitz
Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing
Kyra Bokkers, Eveline M. A. Bleiker, Jacob P. Hoogendam, Mary E. Velthuizen, Henk W. R. Schreuder, Cornelis G. Gerestein, Joost G. Lange, Jacqueline A. Louwers, Marco J. Koudijs, Margreet G. E. M. Ausems, Ronald P. Zweemer
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis
Olga Caramelo, Cristina Silva, Francisco Caramelo, Cristina Frutuoso, Leonor Pinto, Teresa Almeida-Santos
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code
Pål Møller
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study
Julia Dick, Anja Tüchler, Anne Brédart, Frank Vitinius, Kirsten Wassermann, Kerstin Rhiem, Rita K. Schmutzler