Ausgabe 3/2022
Inhalt (16 Artikel)
A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel
Gili Reznick Levi, Gal Larom, Vered Ofen Glassner, Nina Ekhilevitch, Nitzan Sharon Swartzman, Tamar Paperna, Hagit Baris-Feldman, Karin Weiss
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer
Kyra Bokkers, Ronald P. Zweemer, Marco J. Koudijs, Sanne Stehouwer, Mary E. Velthuizen, Eveline M. A. Bleiker, Margreet G. E. M. Ausems
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant
Yael Laitman, Sarah M. Nielsen, Kathryn E. Hatchell, Rebecca Truty, Rinat Bernstein-Molho, Edward D. Esplin, Eitan Friedman
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening
Luigina Bonelli, Ivana Valle, Ivana Rebora, Paola Ricci, Lidia Biocchi, Giovanna Bruschi, Sabrina Parodi, Carla Bruzzone, Liliana Varesco
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman
Elise Pierre-Noël, Fabrice Airaud, Estelle Cauchin, Céline Garrec, Ingrid Ricordeau, Clémence Michon, Olivier Kerdraon, Stéphane Bezieau, Caroline Abadie
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Janni M. Jensen, Anne Skakkebæk, Mette Gaustadness, Mette Sommerlund, Hans Gjørup, Ken Ljungmann, Charlotte K. Lautrup, Lone Sunde
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome
Leatrisse Oba, Ana F. Best, Phuong L. Mai, Maria Isabel Achatz, Paul S. Albert, Sharon A. Savage, Payal P. Khincha
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven
Rieko Taniguchi, Hideki Muramatsu, Yusuke Okuno, Taro Yoshida, Manabu Wakamatsu, Motoharu Hamada, Chiyoe Shirota, Wataru Sumida, Akinari Hinoki, Takahisa Tainaka, Yoshimitsu Gotoh, Toyonori Tsuzuki, Yukichi Tanaka, Seiji Kojima, Hiroo Uchida, Yoshiyuki Takahashi
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition
Miriam J. Smith, D. Gareth Evans
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
Kevin M. Brown, Mai Xu, Michael Sargen, Hyunbum Jang, Mingzhen Zhang, Tongwu Zhang, Bin Zhu, Kristie Jones, Jung Kim, Laura Mendoza, Nicholas K. Hayward, Margaret A. Tucker, Alisa M. Goldstein, Xiaohong Rose Yang, Douglas R. Stewart, Belynda Hicks, Dario Consonni, Angela C. Pesatori, Maria Concetta Fargnoli, Ketty Peris, Alex Stratigos, Chiara Menin, Paola Ghiorzo, Susana Puig, Eduardo Nagore, Thorkell Andresson, Ruth Nussinov, Donato Calista, Maria Teresa Landi
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome
Tiffany Foo, Vivek Nama, Ayoma D. Attygalle, Jonathan Williams, Kara Heelan, Samantha Butler, Terri P. McVeigh
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome
Hannah Dawson, Alannah Smrke, Peter M. Ellery, Nafisa Wilkinson, Adam N. Rosenthal, Terri P. McVeigh
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program
Eryn F. Braley, Angela C. Bedard, Jennifer Nuk, Quan Hong, James E. J. Bedard, Sophie Sun, Kasmintan A. Schrader
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations
Shenin A. Dettwyler, Erika S. Koeppe, Michelle F. Jacobs, Elena M. Stoffel
Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations
Shenin A. Dettwyler, Erika S. Koeppe, Michelle F. Jacobs, Elena M. Stoffel