Classification of BRCA2 variants of uncertain significance (VUS) using an ACMG/AMP model incorporating a homology directed repair (HDR) functional assay.
Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ.
Clin Cancer Res. 2022 Jun 23:clincanres.0203.2022. doi: 10.1158/1078-0432.CCR-22-0203. Epub ahead of print.
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.
Carlsson L, Thain E, Gillies B, Metcalfe K.
Hered Cancer Clin Pract. 2022 Jun 22;20(1):25. doi: 10.1186/s13053-022-00229-x.
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A, Sag SO, Dogan ME, Yildirim MS, Gumus AA, Akkus N, Balasar O, Durmaz CD, Ersoz R, Altiner S, Alemdar A, Aliyeva L, Boga I, Cam FS, Dogan B, Esbah O, Hanta A, Mujde C, Ornek C, Ozer S, Rencuzogullari C, Sonmezler O, Bozdogan ST, Dundar M, Temel SG.
Breast. 2022 Jun 20:S0960-9776(22)00113-8. doi: 10.1016/j.breast.2022.06.005. Epub ahead of print.
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.
J Pathol. 2022 Jun 18. doi: 10.1002/path.5979. Epub ahead of print.
Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
Akbar F, Siddiqui Z, Waheed MT, Ehsan L, Ali SI, Wiquar H, Valimohammed AT, Khan S, Vohra L, Zeeshan S, Rashid Y, Moosajee M, Jabbar AA, Zahir MN, Zahid N, Soomro R, Ullah NN, Ahmad I, Haider G, Ansari U, Rizvi A, Mehboobali A, Sattar A, Kirmani S.
Hered Cancer Clin Pract. 2022 Jun 16;20(1):24. doi: 10.1186/s13053-022-00232-2.
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA.
Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK.
Genet Med. 2022 Jun 3:S1098-3600(22)00757-2. doi: 10.1016/j.gim.2022.05.002. Epub ahead of print.
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.