Ausgabe 1/2019
Inhalt (31 Artikel)
The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans
- Open Access
- Research
Hakyoung Kim, Doo Ho Choi, Won Park, Young-Hyuck Im, Jin Seok Ahn, Yeon Hee Park, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Jong Hwan Yu, Se Kyung Lee, Boo Yeon Jung
Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes
- Open Access
- Research
Leslie Bucheit, Katherine Johansen Taber, Kaylene Ready
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)
- Open Access
- Research
Marta Ramírez-Calvo, Zaida García-Casado, Antonio Fernández-Serra, Inmaculada de Juan, Sarai Palanca, Silvestre Oltra, José Luis Soto, Adela Castillejo, Víctor M Barbera, Ma José Juan-Fita, Ángel Segura, Isabel Chirivella, Ana Beatriz Sánchez, Isabel Tena, Carolina Chaparro, Dolores Salas, José Antonio López-Guerrero
BRCA mutation screening and patterns among high-risk Lebanese subjects
- Open Access
- Research
Chantal Farra, Christelle Dagher, Rebecca Badra, Miza Salim Hammoud, Raafat Alameddine, Johnny Awwad, Muhieddine Seoud, Jaber Abbas, Fouad Boulos, Nagi El Saghir, Deborah Mukherji
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
- Open Access
- Research
Jonas Henn, Isabel Spier, Ronja S. Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz, Sophia Peters, Stefan Aretz
BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer
- Open Access
- Research
Fabrice Kwiatkowski, Mathilde Gay-Bellile, Pascal Dessenne, Claire Laquet, Véronique Boussion, Marie Béguinot, Marie-Françoise Petit, Anne-Sophie Grémeau, Céline Verlet, Charlotte Chaptal, Marilyn Broult, Sylvie Jouvency, Martine Duclos, Yves-Jean Bignon
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
- Open Access
- Research
Toni T. Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D. Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup, Annika Lindblom, John-Paul Plazzer, Ingrid Winship, Douglas Tjandra, Lior H. Katz, Stefan Aretz, Robert Hüneburg, Stefanie Holzapfel, Karl Heinimann, Adriana Della Valle, Florencia Neffa, Nathan Gluck, Wouter H. de Vos tot Nederveen Cappel, Hans Vasen, Monika Morak, Verena Steinke-Lange, Christoph Engel, Nils Rahner, Wolff Schmiegel, Deepak Vangala, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Ignacio Blanco, Sanne ten Broeke, Maartje Nielsen, Ken Ljungmann, Sigve Nakken, Noralane Lindor, Ian Frayling, Eivind Hovig, Lone Sunde, Matthias Kloor, Jukka-Pekka Mecklin, Mette Kalager, Pål Møller
Single-center study of Lynch syndrome screening in colorectal polyps
- Open Access
- Research
FangChao Zhu, Da Pan, Hui Zhang, Qiong Ye, PeiSong Xu, Jie Pan
Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy
- Open Access
- Research
Janusz Menkiszak, Anita Chudecka-Głaz, Aneta Cymbaluk-Płoska, Aleksander Celewicz, Zbigniew Kojs, Mariusz Szajda, Maria Świniarska, Ryszard Bedner, Anna Jurczak, Marta Celewicz, Monika Cieszyńska, Jan Lubiński, Jacek Gronwald
The effect of neoadjuvant platinum-based chemotherapy in BRCA mutated triple negative breast cancers -systematic review and meta-analysis
- Open Access
- Review
Olga Caramelo, Cristina Silva, Francisco Caramelo, Cristina Frutuoso, Teresa Almeida-Santos
Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature
- Open Access
- Research
Lorena P. Suarez-Kelly, Lianbo Yu, David Kline, Eric B. Schneider, Doreen M. Agnese, William E. Carson
Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
- Open Access
- Research
Wei Jiang, Tong Gao, Xiang Tao, Menghan Zhu, Liangqing Yao, Weiwei Feng
Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
- Open Access
- Research
Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle, Sarah Louise Ariansen
Examining intrafamilial communication of colorectal cancer risk status to family members and kin responses to colonoscopy: a qualitative study
- Open Access
- Research
Kaitlin M. McGarragle, Crystal Hare, Spring Holter, Dorian Anglin Facey, Kelly McShane, Steven Gallinger, Tae L. Hart
Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population
- Open Access
- Research
Philip Hilz, Reicela Heinrihsone, Lukas Alexander Pätzold, Qi Qi, Genadijs Trofimovics, Linda Gailite, Arvids Irmejs, Janis Gardovskis, Edvins Miklasevics, Zanda Daneberga
Colorectal carcinoma in the course of inflammatory bowel diseases
- Open Access
- Review
Andrzej Hnatyszyn, Szymon Hryhorowicz, Marta Kaczmarek-Ryś, Emilia Lis, Ryszard Słomski, Rodney J. Scott, Andrzej Pławski
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
- Open Access
- Research
Kevin J. Arvai, Maegan E. Roberts, Rebecca I. Torene, Lisa R. Susswein, Megan L. Marshall, Zhancheng Zhang, Natalie J. Carter, Lauren Yackowski, Erica S. Rinella, Rachel T. Klein, Kathleen S. Hruska, Kyle Retterer
Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia
- Open Access
- Research
Carolina Cortés, Ana Lucía Rivera, David Trochez, Melissa Solarte, Daniela Gómez, Laura Cifuentes, Guillermo Barreto
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies
- Open Access
- Research
Lela Buckingham, Rachel Mitchell, Mark Maienschein-Cline, Stefan Green, Vincent Hong Hu, Melody Cobleigh, Jacob Rotmensch, Kelly Burgess, Lydia Usha
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease
- Open Access
- Research
Anne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, Vera Van Velthoven, Robert Kuijpers, Olaf Michel, Ina Foulon, Anna C. Jansen, Bieke Lefevere, Susanne Bohler, Kathelijn Keymolen, Johan de Mey, Dirk Michielsen, Corina E. Andreescu, Sven Gläsker
Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report
- Open Access
- Case report
Sergio Carrera, Elena Beristain, Aintzane Sancho, Eluska Iruarrizaga, Pilar Rivero, Juan Manuel Mañe, Guillermo López Vivanco
Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome
- Open Access
- Research
Kaitlin M. McGarragle, Melyssa Aronson, Kara Semotiuk, Spring Holter, Crystal J. Hare, Sarah E. Ferguson, Zane Cohen, Tae L. Hart
Outcomes of screening and surveillance in people with two parents affected by colorectal cancers: experiences from the Familial Bowel Cancer Service
- Open Access
- Research
Jennifer Pan, Masha Slattery, Natalie Shea, Finlay Macrae
A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
- Open Access
- Case report
Wenhui Li, Lei Li, Ming Wu
Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
- Open Access
- Research
Muhammad Usman Rashid, Noor Muhammad, Humaira Naeemi, Faiz Ali Khan, Mariam Hassan, Saima Faisal, Sidra Gull, Asim Amin, Asif Loya, Ute Hamann
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
- Open Access
- Research
Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay Macrae, Ingrid Winship, D. Gareth Evans, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Lindblom, John-Paul Plazzer, Douglas Tjandra, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Karina Rønlund, Randi Thyregaard Nielsen, Mette Yilmaz, Louise Laurberg Elvang, Lior Katz, Maartje Nielsen, Sanne W. ten Broeke, Sigve Nakken, Eivind Hovig, Lone Sunde, Matthias Kloor, Magnus v Knebel Doeberitz, Aysel Ahadova, Noralane Lindor, Verena Steinke-Lange, Elke Holinski-Feder, Jukka-Pekka Mecklin, Pål Møller
Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
- Open Access
- Research
Muhammad Usman Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Jan Lubiński, Anna Jakubowska, Muhammed Aasim Yusuf
Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program
- Open Access
- Research
Tanya Dwarte, Skye McKay, Amber Johns, Katherine Tucker, Allan D. Spigelman, David Williams, Alina Stoita
Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study
- Open Access
- Research
Kathleen F. Mittendorf, Jessica Ezzell Hunter, Jennifer L. Schneider, Elizabeth Shuster, Alan F. Rope, Jamilyn Zepp, Marian J. Gilmore, Kristin R. Muessig, James V. Davis, Tia L. Kauffman, Kellene M. Bergen, Georgia L. Wiesner, Louise S. Acheson, Susan K. Peterson, Sapna Syngal, Jacob A. Reiss, Katrina A. B. Goddard
Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
- Open Access
- Research
Kristin E. Clift, Sarah K. Macklin, Stephanie L. Hines
Serum selenium level and cancer risk: a nested case-control study
- Open Access
- Research
Steven A. Narod, Tomasz Huzarski, Anna Jakubowska, Jacek Gronwald, Cezary Cybulski, Oleg Oszurek, Tadeusz Dębniak, Katarzyna Jaworska-Bieniek, Marcin Lener, Katarzyna Białkowska, Grzegorz Sukiennicki, Magdalena Muszyńska, Wojciech Marciniak, Ping Sun, Joanne Kotsopoulos, Jan Lubiński
