1. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry. Issue 1 (11th October 2012) Authors: Thompson, Bryony A.; Goldgar, David E.; Paterson, Carol; Clendenning, Mark; Walters, Rhiannon; Arnold, Sven; Parsons, Michael T.; Michael D., Walsh; Gallinger, Steven; Haile, Robert W.; Hopper, John L.; Jenkins, Mark A.; LeMarchand, Loic; Lindor, Noralane M.; Newcomb, Polly A.; Thibodeau, Stephen... Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. Issue 7 (15th April 2016) Authors: Vallée, Maxime P.; Di Sera, Tonya L.; Nix, David A.; Paquette, Andrew M.; Parsons, Michael T.; Bell, Russel; Hoffman, Andrea; Hogervorst, Frans B. L.; Goldgar, David E.; Spurdle, Amanda B.; Tavtigian, Sean V. Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Issue 9 (23rd August 2019) Authors: Cline, Melissa S.; Babbi, Giulia; Bonache, Sandra; Cao, Yue; Casadio, Rita; de la Cruz, Xavier; Díez, Orland; Gutiérrez‐Enríquez, Sara; Katsonis, Panagiotis; Lai, Carmen; Lichtarge, Olivier; Martelli, Pier L.; Mishne, Gilad; Moles‐Fernández, Alejandro; Montalban, Gemma; Mooney, Sean D.; O'Conner,... 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: 1546 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. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry. Issue 10 (3rd July 2019) Authors: Friebel, Tara M.; Andrulis, Irene L.; Balmaña, Judith; Blanco, Amie M.; Couch, Fergus J.; Daly, Mary B.; Domchek, Susan M.; Easton, Douglas F.; Foulkes, William D.; Ganz, Patricia A.; Garber, Judy; Glendon, Gord; Greene, Mark H.; Hulick, Peter J.; Isaacs, Claudine; Jankowitz, Rachel C.; Karlan, B... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1781 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Issue 7 (2nd December 2013) Authors: Parsons, Michael T.; Whiley, Phillip J.; Beesley, Jonathan; Drost, Mark; de Wind, Niels; Thompson, Bryony A.; Marquart, Louise; Hopper, John L.; Jenkins, Mark A.; Australasian Colorectal Cancer Family Registry; Brown, Melissa A.; Tucker, Kathy; Warwick, Linda; Buchanan, Daniel D.; Spurdle, Amanda B. Journal: Molecular carcinogenesis Issue: Volume 54:Issue 7(2015:Jul.) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model. Issue 5 (1st March 2021) Authors: Davidson, Aimee L.; Leonard, Conrad; Koufariotis, Lambros T.; Parsons, Michael T.; Hollway, Georgina E.; Pearson, John V.; Newell, Felicity; Waddell, Nicola; Spurdle, Amanda B. Journal: Human mutation Issue: Volume 42:Issue 5(2021) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗