Issue 1/2022
Content (14 Articles)
Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant
Timothy W. Grosel, Matthew Karl, Robert T. Pilarski, Frederick H. Davidorf, Mohamed H. Abdel-Rahman, Colleen M. Cebulla
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
Paola Nix, Erin Mundt, Bradford Coffee, Elizabeth Goossen, Bryan M. Warf, Krystal Brown, Karla Bowles, Benjamin Roa
The needs of Southeast Asian BRCA mutation carriers considering risk-reducing salpingo-oophorectomy: a qualitative study
Hamizah Sa’at, Yew-Kong Lee, Sook-Yee Yoon, Siu Wan Wong, Yin Ling Woo, Kristine Barlow-Stewart, Nur Aishah Mohd Taib
Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer
Rachel A. Pozzar, Fangxin Hong, Niya Xiong, Jill E. Stopfer, Manan M. Nayak, Meghan Underhill-Blazey
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature
George Kunnackal John, Vipin Das Villgran, Christine Caufield-Noll, Francis M. Giardiello
Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK
E. Cojocaru, S. Gennatas, K. Thway, C. Fisher, A. Smrke, D. Strauss, A. Hayes, M. Smith, R. L. Jones, C. Benson, T. P. McVeigh
Managing gastric cancer risk in lynch syndrome: controversies and recommendations
C. Richard Boland, Matthew B. Yurgelun, Kathryn A. Mraz, Patrick M. Boland
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
Fadwa A. Elsayed, Carli M. J. Tops, Maartje Nielsen, Hans Morreau, Frederik J. Hes, Tom van Wezel
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
Sue M. Huson, Timo Staab, Marta Pereira, Heather Ward, Roberto Paredes, D. Gareth Evans, Daniel Baumhoer, James O’Sullivan, Ed Cheesman, Detlev Schindler, Stefan Meyer
Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome
Sue M. Huson, Timo Staab, Marta Pereira, Heather Ward, Roberto Paredes, D. Gareth Evans, Daniel Baumhoer, James O’Sullivan, Ed Cheesman, Detlev Schindler, Stefan Meyer
Genetic evaluation of patients and families with concern for hereditary endocrine tumor syndromes
Jennifer L. Anderson, Robert Pilarski, Lawrence Kirschner, Pamela Brock
Genetic predisposition to prostate cancer: an update
Holly Ni Raghallaigh, Rosalind Eeles
Age of diagnosis in familial Barrett’s associated neoplasia
Benita K. Glamour, Omar Alaber, Gino Cioffi, Apoorva K. Chandar, Jill Barnholtz-Sloan, Wendy Brock, Gary W. Falk, Marcia I. Canto, Jean S. Wang, Prasad G. Iyer, Nicholas J. Shaheen, William M. Grady, Julian A. Abrams, Prashanthi N. Thota, Amitabh Chak, Andrew E. Blum