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

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

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra, Simon E Fisher, Christiane Zweier, Angela T Morgan

10.1136/jmg-2022-108734

November 3, 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

Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study

Xin Yang, Mikael Eriksson, Kamila Czene, Andrew Lee, Goska Leslie, Michael Lush, Jean Wang, Joe Dennis, Leila Dorling, Sara Carvalho, Nasim Mavaddat, Jacques Simard, Marjanka K Schmidt, Douglas F Easton, Per Hall, Antonis C Antoniou

10.1136/jmg-2022-108806

September 26, 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

Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases

Inge M M Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E Braspenning, Klaartje van Engelen, Irma van de Beek, Annemiek H van der Hout, Encarna B Gómez García, Arjen R Mensenkamp, Margreet G E M Ausems, Maartje J Hooning, Muriel A Adank, Antoinette Hollestelle, Marjanka K Schmidt, Christi J van Asperen, Peter Devilee

10.1136/jmg-2022-108502

September 22, 2022

Characterising heart rhythm abnormalities associated with Xp22.31 deletion

Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies

10.1136/jmg-2022-108862

November 15, 2022

The role of single-cell genomics in human genetics

Varun K A Sreenivasan, Saranya Balachandran, Malte Spielmann

10.1136/jmedgenet-2022-108588

July 5, 2022

Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence

Andrew Lee, Nasim Mavaddat, Alex Cunningham, Tim Carver, Lorenzo Ficorella, Stephanie Archer, Fiona M Walter, Marc Tischkowitz, Jonathan Roberts, Juliet Usher-Smith, Jacques Simard, Marjanka K Schmidt, Peter Devilee, Vesna Zadnik, Hannes Jürgens, Emmanuelle Mouret-Fourme, Antoine De Pauw, Matti Rookus, Thea M Mooij, Paul PD Pharoah, Douglas F Easton, Antonis C Antoniou

10.1136/jmedgenet-2022-108471

September 26, 2022

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