Most Read Articles

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai-Ren Ong, Adam N Rosenthal, Emma Roisin Woodward, Diana M Eccles, Clare Turnbull, Marc Tischkowitz, On behalf of Consensus meeting attendees, Fiona Lalloo, On behalf of Consensus meeting attendees, Julian Barwell, Cheryl Berlin, Helen Bolton, Angela Brady, Karen Cadoo, Helena Carley, Oonagh Claber, Jackie Cook, Ellen Copson, Rosemarie Davidson, Alan Donaldson, Miranda Durkie, Angela George, Sadaf Ghaem-Maghami, Rachael Mein, Stephanie Greville-Heygate, David Goudie, Sarah Hamilton, Rachel Harrison, Lara Hawkes, Kate Henwood, Debby Holloway, Tracey Irvine, Rema Iyer, Atiyah Kamran, Zoe Kemp, Zosia Miedzybrodzka, Terri McVeigh, Selina Moss Davies, Hannah Musgrave, Sian Nisbet, Paul Pharoah, Marie-Claire Platt, Imran Rafi, Gillian Rea, Sukhwinder Sahota, Aarti Sharma, Lucy Side, Katherine Smith, Katie Snape, Hooman Soleymani majd, Bev Speight, Anil Tailor, William Teh, Karin Williamson

10.1136/jmg-2022-108898

November 21, 2022

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti Sharma, Louise Izatt, Anjana Kulkarni, Vishakha Tripathi, Joyce S Solomons, Kevin Hayes, Helen Hanson, Katie Snape, Lucy Side, Steve Skates, Alistair McGuire, Adam N Rosenthal

10.1136/jmg-2022-108741

November 1, 2022

A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

Bethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke Lucassen, Ranjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D Gareth Evans, Stephen Bremner, Clare Turnbull

10.1136/jmg-2022-108655

July 22, 2022

Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort

Irving Simonin-Wilmer, Raul Ossio, Emmett M Leddin, Mark Harland, Karen A Pooley, Mauricio Gerardo Martil de la Garza, Sofia Obolenski, James Hewinson, Chi C Wong, Vivek Iyer, John C Taylor, Julia A Newton-Bishop, D Timothy Bishop, Gerardo Andrés Cisneros, Mark M Iles, David J Adams, Carla Daniela Robles-Espinoza

10.1136/jmg-2022-108776

December 20, 2022

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren Bartik, Piotr Gnyś, Phillip Grote, Benjamin Odermatt, Heiko M Reutter, Gabriel C Dworschak

10.1136/jmg-2022-108738

November 15, 2022

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D’Arco, The Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie, The Genomics England Research Consortium, J C Ambrose, P Arumugam, R Bevers, M Bleda, F Boardman-Pretty, CR Boustred, H Brittain, M A Brown, M J Caulfield, G C Chan, A Giess, J N Griffin, A Hamblin, S Henderson, T J P Hubbard, R Jackson, L J Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, S E Leigh, I U S Leong, F J Lopez, F Maleady-Crowe, M McEntagart, F Minneci, J Mitchell, L Moutsianas, M Mueller, N Murugaesu, A C Need, P O‘Donovan, C A Odhams, C Patch, D Perez-Gil, M B Pereira, J Pullinger, T Rahim, A Rendon, T Rogers, K Savage, K Sawant, R H Scott, A Siddiq, A Sieghart, S C Smith, A Sosinsky, A Stuckey, M Tanguy, A L Taylor Tavares, E R A Thomas, S R Thompson, A Tucci, M J Welland, E Williams, K Witkowska, S M Wood, M Zarowiecki

10.1136/jmg-2022-108946

December 21, 2022

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, on behalf of the ClinGen CDH1 Variant Curation Expert Panel, Michael Anderson, Terra Brannan, Fatima Carneiro, Elizabeth Chao, Giovanni Corso, Lauren Currie, Jeremy L Davis, Katherine Dixon, Grace-Ann Fasaye, Joana Figuerido, Rachid Karam, Pardeep Kaurah, Chimene Kesserwan, Kristy Lee, Huei San Leong, Xi Luo, Jamie L Maciaszek, Arjen R Mensenkamp, Carla Oliveira, Carolina Pardo, Tina Pesaran, Sharon E Plon, Maegan E Roberts, Kasmintan A Schrader, Brian H Shirts, Sónia Sousa, Amanda B Spurdle, Sean Tavtigian, Bryony A Thompson, Sainan Wei, Sheng-An Yang, Liying Zhang

10.1136/jmg-2022-108807

December 7, 2022