1. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Issue 11 (November 2021) Authors: Bancroft, Elizabeth K; Page, Elizabeth C; Brook, Mark N; Thomas, Sarah; Taylor, Natalie; Pope, Jennifer; McHugh, Jana; Jones, Ann-Britt; Karlsson, Questa; Merson, Susan; Ong, Kai Ren; Hoffman, Jonathan; Huber, Camilla; Maehle, Lovise; Grindedal, Eli Marie; Stormorken, Astrid; Evans, D Gareth; Rot... Journal: Lancet oncology Issue: Volume 22:Issue 11(2021) Page Start: 1618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Issue 1 (December 2015) Authors: Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline; Soucy, Penny; Terry, Mary; Chung, Wendy; Goldgar, David; Buys, Saundra; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia; v... Journal: Breast cancer research Issue: Volume 17:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. (28th July 2021) Authors: Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; ... Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Issue 8 (25th May 2021) Authors: Poole, Rebecca L.; Curry, Philippa D. K.; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D.; Vasudevan, Pradeep; Tatton‐Brown, Katrina Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. (6th April 2013) Authors: Jafri, Mariam; Whitworth, James; Rattenberry, Eleanor; Vialard, Lindsey; Kilby, Gail; Kumar, Ajith V.; Izatt, Louise; Lalloo, Fiona; Brennan, Paul; Cook, Jackie; Morrison, Patrick J.; Canham, Natalie; Armstrong, Ruth; Brewer, Carole; Tomkins, Susan; Donaldson, Alan; Barwell, Julian; Cole, Trevor ... Journal: Clinical endocrinology Issue: Volume 78:Number 6(2013:Jun.) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. (July 2018) Authors: Fewings, Eleanor; Larionov, Alexey; Redman, James; Goldgraben, Mae A; Scarth, James; Richardson, Susan; Brewer, Carole; Davidson, Rosemarie; Ellis, Ian; Evans, D Gareth; Halliday, Dorothy; Izatt, Louise; Marks, Peter; McConnell, Vivienne; Verbist, Louis; Mayes, Rebecca; Clark, Graeme R; Hadfield,... Journal: Lancet gastroenterology and hepatology Issue: Volume 3:Number 7(2018) Page Start: 489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. Issue 8 (12th May 2016) Authors: Prasad, Rathi; Brewer, Carole; Burren, Christine P. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018) Authors: Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021) Authors: Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ... Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations. (22nd June 2018) Authors: Bancroft, Elizabeth K.; Saya, Sibel; Page, Elizabeth C.; Myhill, Kathryn; Thomas, Sarah; Pope, Jennifer; Chamberlain, Anthony; Hart, Rachel; Glover, Wayne; Cook, Jackie; Rosario, Derek J.; Helfand, Brian T.; Hutten Selkirk, Christina; Davidson, Rosemarie; Longmuir, Mark; Eccles, Diana M.; Gadea, ... Journal: BJU international Issue: Volume 123:Number 2(2019) Page Start: 284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗