Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer Ming Ren TohChen Ee LowJoanne Ngeow Original Article 11 February 2020 Pages: 123 - 131
Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway Eli Marie GrindedalKjersti JørgensenLovise Mæhle Original Article Open access 30 January 2020 Pages: 133 - 142
Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention Talayeh S. GhezelayaghLauren E. StewartElizabeth M. Swisher Original Article 24 February 2020 Pages: 143 - 151
The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study Arne G.C. BleijenbergJoep E.G. IJspeertEvelien Dekker Original Article 18 December 2019 Pages: 153 - 160
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics Monika MorakVerena Steinke-LangeElke Holinski-Feder Original Article 30 January 2020 Pages: 161 - 167
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients Randall E. BrandBeth DudleyReetesh K. Pai Original Article 29 January 2020 Pages: 169 - 175
Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): a descriptive study Mari H. KalamoJ. U. MäenpääS. Staff Original Article Open access 29 January 2020 Pages: 177 - 182
Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP) Ceranza G. DaansZeinab GhorbanoghliJurjen J. Boonstra Original Article Open access 22 February 2020 Pages: 183 - 187
Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report Pamela BrockJean Bustamante AlvarezBhavana Konda Short Communication 12 February 2020 Pages: 189 - 192
De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer Rinat Bernstein MolhoShelly ZalmanovizEitan Friedman Short Communication 19 December 2019 Pages: 193 - 196