1. "Decoding hereditary breast cancer" benefits and questions from multigene panel testing. (June 2019) Authors: Colas, Chrystelle; Golmard, Lisa; de Pauw, Antoine; Caputo, Sandrine M.; Stoppa-Lyonnet, Dominique Journal: Breast Issue: Volume 45(2019) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease. (January 2023) Authors: Jiao, Yue; Truong, Thérèse; Eon-Marchais, Séverine; Mebirouk, Noura; Caputo, Sandrine M.; Dondon, Marie-Gabrielle; Karimi, Mojgan; Le Gal, Dorothée; Beauvallet, Juana; Le Floch, Édith; Dandine-Roulland, Claire; Bacq-Daian, Delphine; Olaso, Robert; Albuisson, Juliette; Audebert-Bellanger, Séverine... Journal: European journal of cancer Issue: Volume 179(2023) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. BRCA Share: A Collection of Clinical BRCA Gene Variants. Issue 12 (28th September 2016) Authors: Béroud, Christophe; Letovsky, Stanley I.; Braastad, Corey D.; Caputo, Sandrine M.; Beaudoux, Olivia; Bignon, Yves Jean; Bressac‐De Paillerets, Brigitte; Bronner, Myriam; Buell, Crystal M.; Collod‐Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; Divincenzo, Christina; Elzinga, Christopher D.;... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Issue 12 (24th September 2018) Authors: Burke, Leslie J.; Sevcik, Jan; Gambino, Gaetana; Tudini, Emma; Mucaki, Eliseos J.; Shirley, Ben C.; Whiley, Phillip; Parsons, Michael T.; De Leeneer, Kim; Gutiérrez‐Enríquez, Sara; Santamariña, Marta; Caputo, Sandrine M.; Santana dos Santos, Elizabeth; Soukupova, Jana; Janatova, Marketa; Zemankov... Journal: Human mutation Issue: Volume 39:Issue 12(2018) Page Start: 2025 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Issue 14 (10th May 2022) Authors: Li, Shuai; Silvestri, Valentina; Leslie, Goska; Rebbeck, Timothy R.; Neuhausen, Susan L.; Hopper, John L.; Nielsen, Henriette Roed; Lee, Andrew; Yang, Xin; McGuffog, Lesley; Parsons, Michael T.; Andrulis, Irene L.; Arnold, Norbert; Belotti, Muriel; Borg, Åke; Buecher, Bruno; Buys, Saundra S.; Cap... Journal: Journal of clinical oncology Issue: Volume 40:Issue 14(2022) Page Start: 1529 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2. Issue 2 (3rd December 2013) Authors: Guidugli, Lucia; Carreira, Aura; Caputo, Sandrine M.; Ehlen, Asa; Galli, Alvaro; Monteiro, Alvaro N.A.; Neuhausen, Susan L.; Hansen, Thomas V.O.; Couch, Fergus J.; Vreeswijk, Maaike P.G. Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Is BRCA2 involved in early onset colorectal cancer risk?. Issue 4 (26th December 2019) Authors: Gay‐Bellile, Mathilde; Privat, Maud; Martins, Alexandra; Caputo, Sandrine M.; Pebrel‐Richard, Céline; Cavaillé, Mathias; Viala, Sandrine; Corsini, Carole; Rodrigues, Michael; Barnich, Nicolas; Bidet, Yannick; Uhrhammer, Nancy; Bignon, Yves‐Jean Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Issue 3 (19th January 2022) Authors: Sebai, Molka; Tulasne, David; Caputo, Sandrine M.; Verkarre, Virginie; Fernandes, Marie; Guérin, Célia; Reinhart, Fanny; Adams, Séverine; Maugard, Christine; Caron, Olivier; Guillaud‐Bataille, Marine; Berthet, Pascaline; Bignon, Yves‐Jean; Bressac‐de Paillerets, Brigitte; Burnichon, Nelly; Chiesa... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗