Ausgabe 2/2022
Inhalt (14 Artikel)
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
Mark D. Ludman, Shira Litz Philipsborn, Shulamit Hartmajer, Nitzan Sharon Shwartzman, Eyal Reinstein
Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies
Julia Wynn, Elana Levinson, Carrie Koval, Michelle E. Ernst, Wendy K. Chung
Extended gene panel testing in lobular breast cancer
Elke M. van Veen, D. Gareth Evans, Elaine F. Harkness, Helen J. Byers, Jamie M. Ellingford, Emma R. Woodward, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith
A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel
Keivan Majidzadeh-A, Shiva Zarinfam, Nasrin Abdoli, Fatemeh Yadegari, Rezvan Esmaeili, Leila Farahmand, Azin Teimourzadeh, Mahdieh Taghizadeh, Mansoor Salehi, Mohamad Zamani
“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants
Kathryn G. Reyes, Cheyla Clark, Meredith Gerhart, Ainsley J. Newson, Kelly E. Ormond
Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer patients
Bettina Meiser, Paula Woodward, Margaret Gleeson, Maira Kentwell, Helen Mar Fan, Yoland Antill, Phyllis N. Butow, Frances Boyle, Megan Best, Natalie Taylor, Katy Bell, Kathy Tucker
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population
Kathleen F. Mittendorf, Chinedu Ukaegbu, Marian J. Gilmore, Nangel M. Lindberg, Tia L. Kauffman, Donna J. Eubanks, Elizabeth Shuster, Jake Allen, Carmit McMullen, Heather Spencer Feigelson, Katherine P. Anderson, Michael C. Leo, Jessica Ezzell Hunter, Sonia Okuyama Sasaki, Jamilyn M. Zepp, Sapna Syngal, Benjamin S. Wilfond, Katrina A. B. Goddard
A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer
I. Kedar, L. Walsh, G. Reznick Levi, S. Lieberman, A. Abu Shtaya, S. Naftaly Nathan, I. Lagovsky, R. Tomashov-Matar, M. Goldenberg, L. Basel-Salmon, L. Katz, O. Aleme, T. Yablonski Peretz, A. Hubert, D. Rothstein, S. Castellvi-Bel, T. Walsh, M. C. King, C. C. Pritchard, Z. Levi, E. Half, I. Laish, Y. Goldberg
Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators
Muhammad Salman Faisal, Carol A. Burke, Jean-Paul Achkar, Benjamin Click, Margaret O’Malley, Lisa LaGuardia, Susan Milicia, Brandie Leach, David Liska, James Church, Matthew Kalady, Gautam Mankaney
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management
Claire Palles, Lynn Martin, Enric Domingo, Laura Chegwidden, Josh McGuire, Vicky Cuthill, Ellen Heitzer, Rachel Kerr, David Kerr, Stephen Kearsey, Susan K. Clark, Ian Tomlinson, Andrew Latchford
First international workshop of the ATM and cancer risk group (4-5 December 2019)
Fabienne Lesueur, Douglas F. Easton, Anne-Laure Renault, Sean V. Tavtigian, Jonine L. Bernstein, Zsofia Kote-Jarai, Rosalind A. Eeles, Dijana Plaseska-Karanfia, Lidia Feliubadaló, Alejandro Moles-Fernández, Marta Santamariña-Pena, Alysson T. Sánchez, Anael López-Novo, Luz-Marina Porras, Ana Blanco, Gabriel Capellá, Miguel de la Hoya, Ignacio J. Molina, Ana Osorio, Marta Pineda, Daniel Rueda, Xavier de la Cruz, Orland Diez, Clara Ruiz-Ponte, Sara Gutiérrez-Enríquez, Ana Vega, Conxi Lázaro, Banu Arun, Natalie Herold, Beatrix Versmold, Rita Katharina Schmutzler, Tú Nguyen-Dumont, Melissa C. Southey, Leila Dorling, Alison M. Dunning, Paola Ghiorzo, Bruna Samia Dalmasso, Eve Cavaciuti, Dorothée Le Gal, Nicholas J. Roberts, Mev Dominguez-Valentin, Matti Rookus, Alexander M. R. Taylor, Alisa M. Goldstein, David E. Goldgar, Fergus Couch, Peter Kraft, Jeffrey Weitzel, Kate Nathanson, Susan Domchek, Holly LaDuca, Dominique Stoppa-Lyonnet, Nadine Andrieu
Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings
Ioana Fugaru, Catherine Goudie, John-Paul Capolicchio
CDH1 pathogenic variants and cancer risk in an unselected patient population
Ariel Bar-Mashiah, Emily R. Soper, Sinead Cullina, Gillian M. Belbin, Eimear E. Kenny, Aimee L. Lucas, Noura S. Abul-Husn
The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1
Ashley Crook, Rebekah Kwa, Sarah Ephraums, Mathilda Wilding, Lavvina Thiyagarajan, Jane Fleming, Katrina Moore, Yemima Berman