Ausgabe 4/2023
Inhalt (16 Artikel)
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed
Elsa L. S. A. van Liere, Imke L. Jacobs, Evelien Dekker, Maarten A. J. M. Jacobs, Nanne K. H. de Boer, Dewkoemar Ramsoekh
Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome
J. K. Stone, N. A. Mehta, H. Singh, W. El-Matary, C. N. Bernstein
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
Romy Walker, Mark Clendenning, Jihoon E. Joo, Jessie Xue, Khalid Mahmood, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, James M. Chan, Mark A. Jenkins, Christophe Rosty, Finlay A. Macrae, Stephanie Di Palma, Ainsley Campbell, Ingrid M. Winship, Daniel D. Buchanan
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Ken Ljungmann, Louise Torp Christensen, Karina Rønlund, Pernille Mathiesen Tørring, Birgitte Bertelsen, Lone Sunde, John Gásdal Karstensen
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Rachel Hodan, Linda Rodgers-Fouche, Anu Chittenden, Mev Dominguez-Valentin, James Ferriss, Lauren Gima, Ole-Petter R. Hamnvik, Gregory E. Idos, Kevin Kline, Diane R. Koeller, Jessica M. Long, Danielle McKenna, Charles Muller, Maxton Thoman, Anton Wintner, Bronwyn S. Bedrick
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
Huu-Thinh Nguyen, Y-Thanh Lu, Duc-Huy Tran, Ba-Linh Tieu, Kien-Trung Le, Truong-Vinh Ngoc Pham, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang, Hung-Sang Tang
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
Renata L. Sandoval, Miki Horiguchi, Chinedu Ukaegbu, C. Sloane Furniss, Hajime Uno, Sapna Syngal, Matthew B. Yurgelun
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
Teresa S. Chai, Kanhua Yin, Mackenzie Wooters, Kristen M. Shannon, Kevin S. Hughes
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Kateryna Venger, Miriam Elbracht, Julia Carlens, Peter Deutz, Felix Zeppernick, Lisa Lassay, Christian Kratz, Martin Zenker, Jung Kim, Douglas R. Stewart, Ilse Wieland, Kris Ann P. Schultz, Nicolaus Schwerk, Ingo Kurth, Udo Kontny
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
Anisse Chami, Thalía Rodrigues de Souza Zózimo, Thamiris Matias Alves, Carolina Guimarães Ramos Matosinho, Cleydson Santos, Marcela Mattos Simões, Walter Luiz Ribeiro Cabral, Bernardo Ferreira de Paula Ricardo, Agnaldo Lopes da Silva Filho, Maria Raquel Santos Carvalho, Letícia da Conceição Braga
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
Maria Apellaniz-Ruiz, Nelly Sabbaghian, Anne-Laure Chong, Leanne de Kock, Semra Cetinkaya, Elvan Bayramoğlu, Winand N. M. Dinjens, W. Glenn McCluggage, Anja Wagner, Aslihan Arasli Yilmaz, William D. Foulkes
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Farina J. Struewe, Sarah Schott, Martina de Zwaan, Christian P. Kratz
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Mathilda Wilding, Jane Fleming, Katrina Moore, Ashley Crook, Ranjani Reddy, Sarah Choi, Timothy E. Schlub, Michael Field, Lavvina Thiyagarajan, Jeff Thompson, Yemima Berman
Germline whole genome sequencing in adults with multiple primary tumors
Yiming Wang, Qiliang Ding, Stephenie Prokopec, Kirsten M. Farncombe, Jeffrey Bruce, Selina Casalino, Jeanna McCuaig, Marta Szybowska, Kalene van Engelen, Jordan Lerner-Ellis, Trevor J. Pugh, Raymond H. Kim
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Corrine Fillman, Arravinth Anantharajah, Briana Marmelstein, Monica Dillon, Carolyn Horton, Candace Peterson, Joseph Lopez, Rashmi Tondon, Terra Brannan, Bryson W Katona