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Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study

Faiza Gaba, Shivam Goyal, Dalya Marks, Dhivya Chandrasekaran, Olivia Evans, Sadiyah Robbani, Charlotte Tyson, Rosa Legood, Ertan Saridogan, W Glenn McCluggage, Helen Hanson, Naveena Singh, D Gareth Evans, Usha Menon, Ranjit Manchanda, on behalf of the PROTECTOR team, Raji Ganesan, Gareth Bryson, Gareth Rowlands, Rupali Arora, Munaza Ahmed, Aarti Sharma, Gautam Mehra, Adam Rosenthal, Michelle Mackintosh, Sadaf Ghaem-Maghami, Omer Devaja, Sudha Sundar, Janos Balega, Tim Duncan, Claire Newton, Sonali Kaushik, Angela Brady, Supratik Chattopadhyay, Natalia Povolotskaya, Iain Cameron, Rema Iyer, Lucy Side, Katie Snape, Anil Tailor, Kavitha Thumuluru Madhuri, Katherine Edey, Sian Taylor, Manon van Seters, Suma Kodiathodi, Partha Sengupta, Scott Fegan, Karin Williamson, Andrew Phillips, Mark Willett, Tony Chalhoub, Sanjay Rao, Nicholas Matthews, Beena Abdul, Claire Park, Jane Borley, Ibraheem Hamoodi, Richard Hutson, Kerryn Lutchman-Singh, Richard Peevor, Mahalakshmi Gurumurthy, Kalpana Ragupathy, Emma Crosbie

10.1136/jmedgenet-2020-107501

February 10, 2021

Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services

Sarah Wedderburn, Stephanie Archer, Marc Tischkowitz, Helen Hanson, on behalf of UKCGG, Kai Ren Ong, Alan Donaldson, Carole Brewer, Julian Adlard, Julian Barwell, Lynn Greenhalgh, Fiona Lalloo, Rachel Harrison, Dorothy Halliday, Zoe Kemp, Zofia Miedzybrodzka, Mary Porteous, Rosemarie Davidson, Jackie Cook, Lucy Side, Munaza Ahmed, Anju Kulkarni, Katie Snape, Helen Hanson, Alex Murray, David Goudie, Richard Martin, Marc Tischkowitz, Tabib Dabir, Angela Brady

10.1136/jmedgenet-2020-107529

February 10, 2021

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C Taylor, Genomics England Research Consortium, J C Ambrose, P Arumugam, E L Baple, M Bleda, F Boardman-Pretty, J M Boissiere, C R Boustred, H Brittain, M J Caulfield, G C Chan, C E H Craig, L C Daugherty, A de Burca, A Devereau, G Elgar, R E Foulger, T Fowler, P Furió-Tarí, J M Hackett, D Halai, A Hamblin, S Henderson, J E Holman, T J P Hubbard, K Ibáñez, R Jackson, L J Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, K Lawson, S E A Leigh, I U S Leong, F J Lopez, F Maleady-Crowe, J Mason, E M McDonagh, L Moutsianas, M Mueller, N Murugaesu, A C Need, C A Odhams, C Patch, M B Pereira, D Perez-Gil, D Polychronopoulos, J Pullinger, T Rahim, A Rendon, P Riesgo-Ferreiro, T Rogers, M Ryten, K Savage, K Sawant, R H Scott, A Siddiq, A Sieghart, D Smedley, K R Smith, S C Smith, A Sosinsky, W Spooner, H E Stevens, A Stuckey, R Sultana, E R A Thomas, S R Thompson, C Tregidgo, A Tucci, E Walsh, S A Watters, M J Welland, E Williams, K Witkowska, S M Wood, M Zarowiecki

10.1136/jmedgenet-2020-107528

February 5, 2021

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

Jan Hauke, Philipp Harter, Corinna Ernst, Alexander Burges, Sandra Schmidt, Alexander Reuss, Julika Borde, Nikolaus De Gregorio, Dimo Dietrich, Ahmed El-Balat, Mohamad Kayali, Heidrun Gevensleben, Felix Hilpert, Janine Altmüller, André Heimbach, Werner Meier, Birgid Schoemig-Markiefka, Holger Thiele, Rainer Kimmig, Peter Nürnberg, Karin Kast, Lisa Richters, Jalid Sehouli, Rita K Schmutzler, Eric Hahnen

10.1136/jmedgenet-2020-107353

December 3, 2020