1. A decade of RAD51C and RAD51D germline variants in cancer. Issue 3 (30th December 2021) Authors: Boni, Jacopo; Idani, Aida; Roca, Carla; Feliubadaló, Lidia; Tomiak, Eva; Weber, Evan; Foulkes, William D.; Orthwein, Alexandre; El Haffaf, Zaki; Lazaro, Conxi; Rivera, Barbara Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 285 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. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022) Authors: Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. (January 2019) Authors: Walker, Logan; Marquart, Louise; Pearson, John; Wiggins, George; O'Mara, Tracy; Parsons, Michael; Barrowdale, Daniel; McGuffog, Lesley; Dennis, Joe; Benitez, Javier; Slavin, Thomas; Radice, Paolo; Frost, Debra; Godwin, Andrew; Meindl, Alfons; Schmutzler, Rita; Isaacs, Claudine; Peshkin, Beth; Cal... Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. (February 2023) Authors: Carton, Charlotte; Evans, D. Gareth; Blanco, Ignacio; Friedrich, Reinhard E.; Ferner, Rosalie E.; Farschtschi, Said; Salvador, Hector; Azizi, Amedeo A.; Mautner, Victor; Röhl, Claas; Peltonen, Sirkku; Stivaros, Stavros; Legius, Eric; Oostenbrink, Rianne; Brunet, Joan; Van Calenbergh, Frank; Cassi... Journal: EClinicalMedicine Issue: Volume 56(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015) Authors: Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Issue 1 (December 2016) Authors: Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya; Kar, Siddhartha; Freeman, Adam; Hopper, John; Milne, Roger; Bolla, Manjeet; Wang, Qin; Dennis, Joe; Agata, Simona; Ahmed, Shahana; Aittomäki, Kristiina; Andrulis, Irene; Anton... Journal: Breast cancer research Issue: Volume 18:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32, 295 women. Issue 1 (December 2016) Authors: Rebbeck, Timothy; Friebel, Tara; Mitra, Nandita; Wan, Fei; Chen, Stephanie; Andrulis, Irene; Apostolou, Paraskevi; Arnold, Norbert; Arun, Banu; Barrowdale, Daniel; Benitez, Javier; Berger, Raanan; Berthet, Pascaline; Borg, Ake; Buys, Saundra; Caldes, Trinidad; Carter, Jonathan; Chiquette, Jocelyn... Journal: Breast cancer research Issue: Volume 18:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Issue 8 (8th April 2016) Authors: Fackenthal, James D; Yoshimatsu, Toshio; Zhang, Bifeng; de Garibay, Gorka R; Colombo, Mara; De Vecchi, Giovanna; Ayoub, Samantha C; Lal, Kumar; Olopade, Olufunmilayo I; Vega, Ana; Santamariña, Marta; Blanco, Ana; Wappenschmidt, Barbara; Becker, Alexandra; Houdayer, Claude; Walker, Logan C; López-... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗