Hereditary cancer in clinical practice

Keyphrases

Publications

volume 21, number 1, 2023

Kari Hemminki, Xinjun Li, Asta Försti, Charis Eng
Are population level familial risks and germline genetics meeting each other? Hereditary cancer in clinical practice 21 (1) (2023)
Elina Sivina, Lubova Blumberga, Gunta Purkalne, Arvids Irmejs
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer - single hospital experience. Hereditary cancer in clinical practice 21 (1) (2023)
Suguru Oka, Shinji Urakami, Kiichi Hagiwara, Michikata Hayashida, Kazushige Sakaguchi, Yuji Miura, Naoko Inoshita, Masami Arai
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening. Hereditary cancer in clinical practice 21 (1) (2023)
Olfat Ahmad, Asta Försti
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer. Hereditary cancer in clinical practice 21 (1) (2023)
Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael Christoph Frühwald
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma. Hereditary cancer in clinical practice 21 (1) (2023)
Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagayasu
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience. Hereditary cancer in clinical practice 21 (1) (2023)
Hiroko Nakahira, Yoji Takeuchi, Yusaku Shimamoto, Shingo Ishiguro, Hiroshi Yunokizaki, Yasumasa Ezoe, Fumie Fujisawa, Ryu Ishihara, Tetsuji Takayama, Teruhiko Yoshida, Michihiro Mutoh, Hideki Ishikawa
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis. Hereditary cancer in clinical practice 21 (1) (2023)
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
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan. Hereditary cancer in clinical practice 21 (1) (2023)
M E Papadopulos, J P Plazzer, F A Macrae
Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome. Hereditary cancer in clinical practice 21 (1) (2023)
Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M Pfister, Christian P Schaaf
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel. Hereditary cancer in clinical practice 21 (1) (2023)
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
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? Hereditary cancer in clinical practice 21 (1) (2023)
Samantha Williams, Jessica E Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J Wangensteen, Kathleen Valverde, Nadim Mahmud, Bryson W Katona
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic. Hereditary cancer in clinical practice 21 (1) (2023)
Olfat Ahmad, Asta Försti
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer. Hereditary cancer in clinical practice 21 (1) (2023)
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, null null
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement. Hereditary cancer in clinical practice 21 (1) (2023)
Steven A Narod
Choices for cancer prevention for women with a BRCA1 mutation? a personal view. Hereditary cancer in clinical practice 21 (1) (2023)
Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi, Hiroya Takeuchi
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. Hereditary cancer in clinical practice 21 (1) (2023)
Kaylee A Underkofler, Martha H Thomas, Christina J Taylor, Christa L Mazur, Sarah H Erickson, Kari L Ring
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome. Hereditary cancer in clinical practice 21 (1) (2023)
Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria. Hereditary cancer in clinical practice 21 (1) (2023)
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
"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients. Hereditary cancer in clinical practice 21 (1) (2023)
Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolova
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. Hereditary cancer in clinical practice 21 (1) (2023)
M F Broekema, E J W Redeker, M T Uiterwaal, L P van Hest
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia. Hereditary cancer in clinical practice 21 (1) (2023)
Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod, Jan Lubinski
Genetic testing for hereditary breast cancer in Poland: 1998-2022. Hereditary cancer in clinical practice 21 (1) (2023)
Tracy Lowe, Jane DeLuca, Ludovico Abenavoli, Luigi Boccuto
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families. Hereditary cancer in clinical practice 21 (1) (2023)
Samantha Williams, Jessica E Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J Wangensteen, Kathleen Valverde, Nadim Mahmud, Bryson W Katona
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic. Hereditary cancer in clinical practice 21 (1) (2023)
Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen, Anne Marie Jelsig
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres. Hereditary cancer in clinical practice 21 (1) (2023)
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
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? Hereditary cancer in clinical practice 21 (1) (2023)
Zewen Zhang, Nur Diana Binte Ishak, Frances Victoria Fajardo Que, Zi Yang Chua, Sock Hoai Chan, Jianbang Chiang, Joanne Ngeow Yuen Yie
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore. Hereditary cancer in clinical practice 21 (1) (2023)
Kari Hemminki, Xinjun Li, Asta Försti, Charis Eng
Are population level familial risks and germline genetics meeting each other? Hereditary cancer in clinical practice 21 (1) (2023)
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
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? Hereditary cancer in clinical practice 21 (1) (2023)
Kari Hemminki, Xinjun Li, Asta Försti, Charis Eng
Are population level familial risks and germline genetics meeting each other? Hereditary cancer in clinical practice 21 (1) (2023)
Bin-Bin Li, Hui Zheng, Yi-Dan Lou, Wen-Wei Zhang, Song Zheng
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report. Hereditary cancer in clinical practice 21 (1) (2023)
Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen, Anne Marie Jelsig
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres. Hereditary cancer in clinical practice 21 (1) (2023)
Samantha Williams, Jessica E Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J Wangensteen, Kathleen Valverde, Nadim Mahmud, Bryson W Katona
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic. Hereditary cancer in clinical practice 21 (1) (2023)
Elina Sivina, Lubova Blumberga, Gunta Purkalne, Arvids Irmejs
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer - single hospital experience. Hereditary cancer in clinical practice 21 (1) (2023)

volume 20, number 1, 2022

Pål Møller
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code. Hereditary cancer in clinical practice 20 (1) (2022)
Julia Dick, Anja Tüchler, Anne Brédart, Frank Vitinius, Kirsten Wassermann, Kerstin Rhiem, Rita K Schmutzler
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study. Hereditary cancer in clinical practice 20 (1) (2022)
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, null null
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary cancer in clinical practice 20 (1) (2022)
Olga Caramelo, Cristina Silva, Francisco Caramelo, Cristina Frutuoso, Leonor Pinto, Teresa Almeida-Santos
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis. Hereditary cancer in clinical practice 20 (1) (2022)
Julia Dick, Anja Tüchler, Anne Brédart, Frank Vitinius, Kirsten Wassermann, Kerstin Rhiem, Rita K Schmutzler
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study. Hereditary cancer in clinical practice 20 (1) (2022)
Rodney J Scott
Modifier genes and Lynch syndrome: some considerations. Hereditary cancer in clinical practice 20 (1) (2022)
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
Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing. Hereditary cancer in clinical practice 20 (1) (2022)
Fatima Zahra El Ansari, Farah Jouali, Rim Fekkak, Joaira Bakkach, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita, Jamal Fekkak
BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer. Hereditary cancer in clinical practice 20 (1) (2022)
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
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. Hereditary cancer in clinical practice 20 (1) (2022)
Serena Barilla, Annika Lindblom, Hafdis T Helgadottir
Unravelling genetic variants of a swedish family with high risk of prostate cancer. Hereditary cancer in clinical practice 20 (1) (2022)
Marek Olakowski, Łukasz Bułdak
Current status of inherited pancreatic cancer. Hereditary cancer in clinical practice 20 (1) (2022)
Ibrahim H Shah, Erin E Salo-Mullen, Kimberly A Amoroso, David Kelsen, Zsofia K Stadler, Jada G Hamilton
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome. Hereditary cancer in clinical practice 20 (1) (2022)
Sowmya Jonnagadla, Sharelle L Joseland, Sibel Saya, Nicole den Elzen, Ingrid M Winship, Ingrid M Winship, Daniel D Buchanan
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer. Hereditary cancer in clinical practice 20 (1) (2022)
Lindsay Carlsson, Emily Thain, Brittany Gillies, Kelly Metcalfe
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature. Hereditary cancer in clinical practice 20 (1) (2022)
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
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews. Hereditary cancer in clinical practice 20 (1) (2022)
Jerold Loh, Pei Yi Ong, Denise Li Meng Goh, Mark E Puhaindran, Balamurugan A Vellayappan, Samuel Guan Wei Ow, Gloria Chan, Soo-Chin Lee
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore. Hereditary cancer in clinical practice 20 (1) (2022)