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Your search keyword '"Muhammad Usman Rashid"' showing total 3 results
Start Over Author "Muhammad Usman Rashid" Publisher american association for cancer research (aacr)
3 results on '"Muhammad Usman Rashid"'

1. Supplementary Figures from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Fergus J. Couch, Maaike P.G. Vreeswijk, Aura Carreira, David E. Goldgar, Alvaro N.A. Monteiro, Harry Vrieling, Peter Devilee, Amanda Spurdle, Douglas F. Easton, Setareh Moghadasi, Liliana Varesco, Kathleen B.M. Claes, Florentia Fostira, Lenka Foretova, Logan Walker, Jennifer Leary, Ying Zheng, Wei Zheng, Jyh-Cherng Yu, Anna H. Wu, Robert Winqvist, Qin Wang, Lizet E. van der Kolk, Christi J. van Asperen, Thérèse Truong, Diana Torres, Ian Tomlinson, Soo H. Teo, Anthony Swerdlow, Daniel O. Stram, Melissa C. Southey, Susan Slager, Xiao-Ou Shu, Martha Shrubsole, Chen-Yang Shen, Mitul Shah, Caroline Seynaeve, Minouk J. Schoemaker, Marjanka K. Schmidt, Elinor J. Sawyer, Suleeporn Sangrajrang, Anja Rudolph, Valerie Rhenius, Muhammad Usman Rashid, Paolo Radice, Katri Pylkäs, Paul D.P. Pharoah, Julian Peto, Paolo Peterlongo, Ana Osorio, Jan J.C. Oosterwijk, Curtis Olswold, Janet E. Olson, Heli Nevanlinna, Susan L. Neuhausen, Kenneth Muir, Roger L. Milne, Kyriaki Michailidou, Hui Miao, Keitaro Matsuo, Frederik Marme, Sara Margolin, Arto Mannermaa, Eva Machackova, Jan Lubinski, Artitaya Lophatananon, Annika Lindblom, Jingmei Li, Loic Le Marchand, Diether Lambrechts, Kah-Nyin Lai, Vessela Kristensen, Veli-Matti Kosma, Daehee Kang, Anna Jakubowska, Hidemi Ito, John L. Hopper, Antoinette Hollestelle, Frans B. Hogervorst, Mikael Hartman, Ute Hamann, Per Hall, Christopher A. Haiman, Pascal Guénel, Gord Glendon, Graham G. Giles, Montserrat García-Closas, Henrik Flyger, Jonine Figueroa, Peter A. Fasching, Alison M. Dunning, Isabel dos-Santos-Silva, Thilo Dörk, Joe Dennis, Hatef Darabi, Kamila Czene, Simon S. Cross, Angela Cox, J. Margriet Collée, Ji-Yeob Choi, Ching-Yu Cheng, Georgia Chenevix-Trench, Jenny Chang-Claude, Barbara Burwinkel, Thomas Brüning, Barbara Brouwers, Annegien Broeks, Hermann Brenner, Paul Brennan, Hiltrud Brauch, Anne-Lise Borresen-Dale, Manjeet K. Bolla, Stig E. Bojesen, Natalia V. Bogdanova, Javier Benitez, Matthias W. Beckmann, Volker Arndt, Hoda Anton-Culver, Irene Andrulis, Kristiina Aittomäki, Cora M. Aalfs, Chunling Hu, Jenna Lilyquist, Jamie Hinton, Emily Hallberg, Huong Meeks, Fabienne M.G.R. Calléja, Charlotte Martin, Lucia Guidugli, Asa Ehlen, Catharina Von Nicolai, Romy L.S. Mesman, and Hermela Shimelis

Abstract

Figure S1: BCRA2 p.Y3035S Pedigrees. Figure S2: Western blot of ectopically expressed full-length wildtype and mutant hBRCA2 protein in VC8 DR-GFP cells subjected to HDR assay. Figure S3: Purification of wildtype and mutant BRCA2 from human cells. Figure S4: Position of BRCA2 DNA binding domain (DBD) variants on a ribbon diagram of the murine DBD crystal structure.

Published
2023

2. Supplementary Tables and References from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Fergus J. Couch, Maaike P.G. Vreeswijk, Aura Carreira, David E. Goldgar, Alvaro N.A. Monteiro, Harry Vrieling, Peter Devilee, Amanda Spurdle, Douglas F. Easton, Setareh Moghadasi, Liliana Varesco, Kathleen B.M. Claes, Florentia Fostira, Lenka Foretova, Logan Walker, Jennifer Leary, Ying Zheng, Wei Zheng, Jyh-Cherng Yu, Anna H. Wu, Robert Winqvist, Qin Wang, Lizet E. van der Kolk, Christi J. van Asperen, Thérèse Truong, Diana Torres, Ian Tomlinson, Soo H. Teo, Anthony Swerdlow, Daniel O. Stram, Melissa C. Southey, Susan Slager, Xiao-Ou Shu, Martha Shrubsole, Chen-Yang Shen, Mitul Shah, Caroline Seynaeve, Minouk J. Schoemaker, Marjanka K. Schmidt, Elinor J. Sawyer, Suleeporn Sangrajrang, Anja Rudolph, Valerie Rhenius, Muhammad Usman Rashid, Paolo Radice, Katri Pylkäs, Paul D.P. Pharoah, Julian Peto, Paolo Peterlongo, Ana Osorio, Jan J.C. Oosterwijk, Curtis Olswold, Janet E. Olson, Heli Nevanlinna, Susan L. Neuhausen, Kenneth Muir, Roger L. Milne, Kyriaki Michailidou, Hui Miao, Keitaro Matsuo, Frederik Marme, Sara Margolin, Arto Mannermaa, Eva Machackova, Jan Lubinski, Artitaya Lophatananon, Annika Lindblom, Jingmei Li, Loic Le Marchand, Diether Lambrechts, Kah-Nyin Lai, Vessela Kristensen, Veli-Matti Kosma, Daehee Kang, Anna Jakubowska, Hidemi Ito, John L. Hopper, Antoinette Hollestelle, Frans B. Hogervorst, Mikael Hartman, Ute Hamann, Per Hall, Christopher A. Haiman, Pascal Guénel, Gord Glendon, Graham G. Giles, Montserrat García-Closas, Henrik Flyger, Jonine Figueroa, Peter A. Fasching, Alison M. Dunning, Isabel dos-Santos-Silva, Thilo Dörk, Joe Dennis, Hatef Darabi, Kamila Czene, Simon S. Cross, Angela Cox, J. Margriet Collée, Ji-Yeob Choi, Ching-Yu Cheng, Georgia Chenevix-Trench, Jenny Chang-Claude, Barbara Burwinkel, Thomas Brüning, Barbara Brouwers, Annegien Broeks, Hermann Brenner, Paul Brennan, Hiltrud Brauch, Anne-Lise Borresen-Dale, Manjeet K. Bolla, Stig E. Bojesen, Natalia V. Bogdanova, Javier Benitez, Matthias W. Beckmann, Volker Arndt, Hoda Anton-Culver, Irene Andrulis, Kristiina Aittomäki, Cora M. Aalfs, Chunling Hu, Jenna Lilyquist, Jamie Hinton, Emily Hallberg, Huong Meeks, Fabienne M.G.R. Calléja, Charlotte Martin, Lucia Guidugli, Asa Ehlen, Catharina Von Nicolai, Romy L.S. Mesman, and Hermela Shimelis

Abstract

Table S1: Description of the BCAC studies contributing to COGS. Table S2: Predicted effects of BRCA1 and BRCA2 variants included in the iCOGS array on protein function. Table S3: Frequency of BRCA1 and BRCA2 variants from iCOGS in breast cancer cases and controls. Table S4: Family studies of Y3035S showing scores for each family by constant relative risk and 75% penetrance. Supplementary References.

Published
2023

3. Data from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Fergus J. Couch, Maaike P.G. Vreeswijk, Aura Carreira, David E. Goldgar, Alvaro N.A. Monteiro, Harry Vrieling, Peter Devilee, Amanda Spurdle, Douglas F. Easton, Setareh Moghadasi, Liliana Varesco, Kathleen B.M. Claes, Florentia Fostira, Lenka Foretova, Logan Walker, Jennifer Leary, Ying Zheng, Wei Zheng, Jyh-Cherng Yu, Anna H. Wu, Robert Winqvist, Qin Wang, Lizet E. van der Kolk, Christi J. van Asperen, Thérèse Truong, Diana Torres, Ian Tomlinson, Soo H. Teo, Anthony Swerdlow, Daniel O. Stram, Melissa C. Southey, Susan Slager, Xiao-Ou Shu, Martha Shrubsole, Chen-Yang Shen, Mitul Shah, Caroline Seynaeve, Minouk J. Schoemaker, Marjanka K. Schmidt, Elinor J. Sawyer, Suleeporn Sangrajrang, Anja Rudolph, Valerie Rhenius, Muhammad Usman Rashid, Paolo Radice, Katri Pylkäs, Paul D.P. Pharoah, Julian Peto, Paolo Peterlongo, Ana Osorio, Jan J.C. Oosterwijk, Curtis Olswold, Janet E. Olson, Heli Nevanlinna, Susan L. Neuhausen, Kenneth Muir, Roger L. Milne, Kyriaki Michailidou, Hui Miao, Keitaro Matsuo, Frederik Marme, Sara Margolin, Arto Mannermaa, Eva Machackova, Jan Lubinski, Artitaya Lophatananon, Annika Lindblom, Jingmei Li, Loic Le Marchand, Diether Lambrechts, Kah-Nyin Lai, Vessela Kristensen, Veli-Matti Kosma, Daehee Kang, Anna Jakubowska, Hidemi Ito, John L. Hopper, Antoinette Hollestelle, Frans B. Hogervorst, Mikael Hartman, Ute Hamann, Per Hall, Christopher A. Haiman, Pascal Guénel, Gord Glendon, Graham G. Giles, Montserrat García-Closas, Henrik Flyger, Jonine Figueroa, Peter A. Fasching, Alison M. Dunning, Isabel dos-Santos-Silva, Thilo Dörk, Joe Dennis, Hatef Darabi, Kamila Czene, Simon S. Cross, Angela Cox, J. Margriet Collée, Ji-Yeob Choi, Ching-Yu Cheng, Georgia Chenevix-Trench, Jenny Chang-Claude, Barbara Burwinkel, Thomas Brüning, Barbara Brouwers, Annegien Broeks, Hermann Brenner, Paul Brennan, Hiltrud Brauch, Anne-Lise Borresen-Dale, Manjeet K. Bolla, Stig E. Bojesen, Natalia V. Bogdanova, Javier Benitez, Matthias W. Beckmann, Volker Arndt, Hoda Anton-Culver, Irene Andrulis, Kristiina Aittomäki, Cora M. Aalfs, Chunling Hu, Jenna Lilyquist, Jamie Hinton, Emily Hallberg, Huong Meeks, Fabienne M.G.R. Calléja, Charlotte Martin, Lucia Guidugli, Asa Ehlen, Catharina Von Nicolai, Romy L.S. Mesman, and Hermela Shimelis

Abstract

Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case–control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789–99. ©2017 AACR.

Published
2023

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