Familial Cancer

Balancing the burden and benefits of colonoscopy in Lynch Syndrome

Finlay Macrae

Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed

• Open Access
• Original article

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

• Review

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

• Open Access
• Brief 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

• Open Access
• Original Article

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

• Review

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

• Original Article

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

• Original Article

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

• Original article

Teresa S. Chai, Kanhua Yin, Mackenzie Wooters, Kristen M. Shannon, Kevin S. Hughes

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

• Open Access
• Short Communication

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

• Short Communication

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

• Open Access
• Brief Report

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

• Open Access
• Letter to the editor

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

• Original Article

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

• Original Article

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

• Original Article

Corrine Fillman, Arravinth Anantharajah, Briana Marmelstein, Monica Dillon, Carolyn Horton, Candace Peterson, Joseph Lopez, Rashmi Tondon, Terra Brannan, Bryson W Katona