Breast cancer risks associated with missense variants in breast cancer susceptibility genes

10.1186/s13073-022-01052-8

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Main Authors: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T, Fortuno, Cristina, Gonzalez-Neira, Anna, Heijl, Stephan M, Adank, Muriel A, Ahearn, Thomas U, Andrulis, Irene L, Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bremer, Michael, Briceno, Ignacio, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Collee, J Margriet, Czene, Kamila, Dennis, Joe, Dork, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guenel, Pascal, Gundert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hogervorst, Frans BL, Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N, Lakeman, Inge MM, Li, Jingmei, Lindblom, Annika, Loizidou, Maria A, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Madsen, Michael J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G, Oosterwijk, Jan C, Park, Sue K, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sim, Xueling, Southey, Melissa C, Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J, Waltes, Regina, Wang, Qin, Yang, Xiaohong R, Pharoah, Paul DP, Schmidt, Marjanka K, Benitez, Javier, Vroling, Bas, Dunning, Alison M, Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B, Vreeswijk, Maaike PG, Easton, Douglas F
Other Authors: SURGERY
Format: Article
Language:English
Published: BMC 2023
Subjects:
Online Access:https://scholarbank.nus.edu.sg/handle/10635/237389
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Institution: National University of Singapore
Language: English
id sg-nus-scholar.10635-237389
record_format dspace
institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
language English
topic Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Breast cancer
Genetic epidemiology
Risk prediction
Missense variants
UNKNOWN CLINICAL-SIGNIFICANCE
SEQUENCE VARIANTS
PATHOGENICITY
CLASSIFICATION
SUBSTITUTIONS
MUTATIONS
FRAMEWORK
BRCA1
spellingShingle Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Breast cancer
Genetic epidemiology
Risk prediction
Missense variants
UNKNOWN CLINICAL-SIGNIFICANCE
SEQUENCE VARIANTS
PATHOGENICITY
CLASSIFICATION
SUBSTITUTIONS
MUTATIONS
FRAMEWORK
BRCA1
Dorling, Leila
Carvalho, Sara
Allen, Jamie
Parsons, Michael T
Fortuno, Cristina
Gonzalez-Neira, Anna
Heijl, Stephan M
Adank, Muriel A
Ahearn, Thomas U
Andrulis, Irene L
Auvinen, Paivi
Becher, Heiko
Beckmann, Matthias W
Behrens, Sabine
Bermisheva, Marina
Bogdanova, Natalia V
Bojesen, Stig E
Bolla, Manjeet K
Bremer, Michael
Briceno, Ignacio
Camp, Nicola J
Campbell, Archie
Castelao, Jose E
Chang-Claude, Jenny
Chanock, Stephen J
Chenevix-Trench, Georgia
Collee, J Margriet
Czene, Kamila
Dennis, Joe
Dork, Thilo
Eriksson, Mikael
Evans, D Gareth
Fasching, Peter A
Figueroa, Jonine
Flyger, Henrik
Gabrielson, Marike
Gago-Dominguez, Manuela
Garcia-Closas, Montserrat
Giles, Graham G
Glendon, Gord
Guenel, Pascal
Gundert, Melanie
Hadjisavvas, Andreas
Hahnen, Eric
Hall, Per
Hamann, Ute
Harkness, Elaine F
Hartman, Mikael
Hogervorst, Frans BL
Hollestelle, Antoinette
Hoppe, Reiner
Howell, Anthony
Jakubowska, Anna
Jung, Audrey
Khusnutdinova, Elza
Kim, Sung-Won
Ko, Yon-Dschun
Kristensen, Vessela N
Lakeman, Inge MM
Li, Jingmei
Lindblom, Annika
Loizidou, Maria A
Lophatananon, Artitaya
Lubinski, Jan
Luccarini, Craig
Madsen, Michael J
Mannermaa, Arto
Manoochehri, Mehdi
Margolin, Sara
Mavroudis, Dimitrios
Milne, Roger L
Mohd Taib, Nur Aishah
Muir, Kenneth
Nevanlinna, Heli
Newman, William G
Oosterwijk, Jan C
Park, Sue K
Peterlongo, Paolo
Radice, Paolo
Saloustros, Emmanouil
Sawyer, Elinor J
Schmutzler, Rita K
Shah, Mitul
Sim, Xueling
Southey, Melissa C
Surowy, Harald
Suvanto, Maija
Tomlinson, Ian
Torres, Diana
Truong, Therese
van Asperen, Christi J
Waltes, Regina
Wang, Qin
Yang, Xiaohong R
Pharoah, Paul DP
Schmidt, Marjanka K
Benitez, Javier
Vroling, Bas
Dunning, Alison M
Teo, Soo Hwang
Kvist, Anders
de la Hoya, Miguel
Devilee, Peter
Spurdle, Amanda B
Vreeswijk, Maaike PG
Easton, Douglas F
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
description 10.1186/s13073-022-01052-8
author2 SURGERY
author_facet SURGERY
Dorling, Leila
Carvalho, Sara
Allen, Jamie
Parsons, Michael T
Fortuno, Cristina
Gonzalez-Neira, Anna
Heijl, Stephan M
Adank, Muriel A
Ahearn, Thomas U
Andrulis, Irene L
Auvinen, Paivi
Becher, Heiko
Beckmann, Matthias W
Behrens, Sabine
Bermisheva, Marina
Bogdanova, Natalia V
Bojesen, Stig E
Bolla, Manjeet K
Bremer, Michael
Briceno, Ignacio
Camp, Nicola J
Campbell, Archie
Castelao, Jose E
Chang-Claude, Jenny
Chanock, Stephen J
Chenevix-Trench, Georgia
Collee, J Margriet
Czene, Kamila
Dennis, Joe
Dork, Thilo
Eriksson, Mikael
Evans, D Gareth
Fasching, Peter A
Figueroa, Jonine
Flyger, Henrik
Gabrielson, Marike
Gago-Dominguez, Manuela
Garcia-Closas, Montserrat
Giles, Graham G
Glendon, Gord
Guenel, Pascal
Gundert, Melanie
Hadjisavvas, Andreas
Hahnen, Eric
Hall, Per
Hamann, Ute
Harkness, Elaine F
Hartman, Mikael
Hogervorst, Frans BL
Hollestelle, Antoinette
Hoppe, Reiner
Howell, Anthony
Jakubowska, Anna
Jung, Audrey
Khusnutdinova, Elza
Kim, Sung-Won
Ko, Yon-Dschun
Kristensen, Vessela N
Lakeman, Inge MM
Li, Jingmei
Lindblom, Annika
Loizidou, Maria A
Lophatananon, Artitaya
Lubinski, Jan
Luccarini, Craig
Madsen, Michael J
Mannermaa, Arto
Manoochehri, Mehdi
Margolin, Sara
Mavroudis, Dimitrios
Milne, Roger L
Mohd Taib, Nur Aishah
Muir, Kenneth
Nevanlinna, Heli
Newman, William G
Oosterwijk, Jan C
Park, Sue K
Peterlongo, Paolo
Radice, Paolo
Saloustros, Emmanouil
Sawyer, Elinor J
Schmutzler, Rita K
Shah, Mitul
Sim, Xueling
Southey, Melissa C
Surowy, Harald
Suvanto, Maija
Tomlinson, Ian
Torres, Diana
Truong, Therese
van Asperen, Christi J
Waltes, Regina
Wang, Qin
Yang, Xiaohong R
Pharoah, Paul DP
Schmidt, Marjanka K
Benitez, Javier
Vroling, Bas
Dunning, Alison M
Teo, Soo Hwang
Kvist, Anders
de la Hoya, Miguel
Devilee, Peter
Spurdle, Amanda B
Vreeswijk, Maaike PG
Easton, Douglas F
format Article
author Dorling, Leila
Carvalho, Sara
Allen, Jamie
Parsons, Michael T
Fortuno, Cristina
Gonzalez-Neira, Anna
Heijl, Stephan M
Adank, Muriel A
Ahearn, Thomas U
Andrulis, Irene L
Auvinen, Paivi
Becher, Heiko
Beckmann, Matthias W
Behrens, Sabine
Bermisheva, Marina
Bogdanova, Natalia V
Bojesen, Stig E
Bolla, Manjeet K
Bremer, Michael
Briceno, Ignacio
Camp, Nicola J
Campbell, Archie
Castelao, Jose E
Chang-Claude, Jenny
Chanock, Stephen J
Chenevix-Trench, Georgia
Collee, J Margriet
Czene, Kamila
Dennis, Joe
Dork, Thilo
Eriksson, Mikael
Evans, D Gareth
Fasching, Peter A
Figueroa, Jonine
Flyger, Henrik
Gabrielson, Marike
Gago-Dominguez, Manuela
Garcia-Closas, Montserrat
Giles, Graham G
Glendon, Gord
Guenel, Pascal
Gundert, Melanie
Hadjisavvas, Andreas
Hahnen, Eric
Hall, Per
Hamann, Ute
Harkness, Elaine F
Hartman, Mikael
Hogervorst, Frans BL
Hollestelle, Antoinette
Hoppe, Reiner
Howell, Anthony
Jakubowska, Anna
Jung, Audrey
Khusnutdinova, Elza
Kim, Sung-Won
Ko, Yon-Dschun
Kristensen, Vessela N
Lakeman, Inge MM
Li, Jingmei
Lindblom, Annika
Loizidou, Maria A
Lophatananon, Artitaya
Lubinski, Jan
Luccarini, Craig
Madsen, Michael J
Mannermaa, Arto
Manoochehri, Mehdi
Margolin, Sara
Mavroudis, Dimitrios
Milne, Roger L
Mohd Taib, Nur Aishah
Muir, Kenneth
Nevanlinna, Heli
Newman, William G
Oosterwijk, Jan C
Park, Sue K
Peterlongo, Paolo
Radice, Paolo
Saloustros, Emmanouil
Sawyer, Elinor J
Schmutzler, Rita K
Shah, Mitul
Sim, Xueling
Southey, Melissa C
Surowy, Harald
Suvanto, Maija
Tomlinson, Ian
Torres, Diana
Truong, Therese
van Asperen, Christi J
Waltes, Regina
Wang, Qin
Yang, Xiaohong R
Pharoah, Paul DP
Schmidt, Marjanka K
Benitez, Javier
Vroling, Bas
Dunning, Alison M
Teo, Soo Hwang
Kvist, Anders
de la Hoya, Miguel
Devilee, Peter
Spurdle, Amanda B
Vreeswijk, Maaike PG
Easton, Douglas F
author_sort Dorling, Leila
title Breast cancer risks associated with missense variants in breast cancer susceptibility genes
title_short Breast cancer risks associated with missense variants in breast cancer susceptibility genes
title_full Breast cancer risks associated with missense variants in breast cancer susceptibility genes
title_fullStr Breast cancer risks associated with missense variants in breast cancer susceptibility genes
title_full_unstemmed Breast cancer risks associated with missense variants in breast cancer susceptibility genes
title_sort breast cancer risks associated with missense variants in breast cancer susceptibility genes
publisher BMC
publishDate 2023
url https://scholarbank.nus.edu.sg/handle/10635/237389
_version_ 1800915783593754624
spelling sg-nus-scholar.10635-2373892024-04-25T02:37:57Z Breast cancer risks associated with missense variants in breast cancer susceptibility genes Dorling, Leila Carvalho, Sara Allen, Jamie Parsons, Michael T Fortuno, Cristina Gonzalez-Neira, Anna Heijl, Stephan M Adank, Muriel A Ahearn, Thomas U Andrulis, Irene L Auvinen, Paivi Becher, Heiko Beckmann, Matthias W Behrens, Sabine Bermisheva, Marina Bogdanova, Natalia V Bojesen, Stig E Bolla, Manjeet K Bremer, Michael Briceno, Ignacio Camp, Nicola J Campbell, Archie Castelao, Jose E Chang-Claude, Jenny Chanock, Stephen J Chenevix-Trench, Georgia Collee, J Margriet Czene, Kamila Dennis, Joe Dork, Thilo Eriksson, Mikael Evans, D Gareth Fasching, Peter A Figueroa, Jonine Flyger, Henrik Gabrielson, Marike Gago-Dominguez, Manuela Garcia-Closas, Montserrat Giles, Graham G Glendon, Gord Guenel, Pascal Gundert, Melanie Hadjisavvas, Andreas Hahnen, Eric Hall, Per Hamann, Ute Harkness, Elaine F Hartman, Mikael Hogervorst, Frans BL Hollestelle, Antoinette Hoppe, Reiner Howell, Anthony Jakubowska, Anna Jung, Audrey Khusnutdinova, Elza Kim, Sung-Won Ko, Yon-Dschun Kristensen, Vessela N Lakeman, Inge MM Li, Jingmei Lindblom, Annika Loizidou, Maria A Lophatananon, Artitaya Lubinski, Jan Luccarini, Craig Madsen, Michael J Mannermaa, Arto Manoochehri, Mehdi Margolin, Sara Mavroudis, Dimitrios Milne, Roger L Mohd Taib, Nur Aishah Muir, Kenneth Nevanlinna, Heli Newman, William G Oosterwijk, Jan C Park, Sue K Peterlongo, Paolo Radice, Paolo Saloustros, Emmanouil Sawyer, Elinor J Schmutzler, Rita K Shah, Mitul Sim, Xueling Southey, Melissa C Surowy, Harald Suvanto, Maija Tomlinson, Ian Torres, Diana Truong, Therese van Asperen, Christi J Waltes, Regina Wang, Qin Yang, Xiaohong R Pharoah, Paul DP Schmidt, Marjanka K Benitez, Javier Vroling, Bas Dunning, Alison M Teo, Soo Hwang Kvist, Anders de la Hoya, Miguel Devilee, Peter Spurdle, Amanda B Vreeswijk, Maaike PG Easton, Douglas F SURGERY SAW SWEE HOCK SCHOOL OF PUBLIC HEALTH Science & Technology Life Sciences & Biomedicine Genetics & Heredity Breast cancer Genetic epidemiology Risk prediction Missense variants UNKNOWN CLINICAL-SIGNIFICANCE SEQUENCE VARIANTS PATHOGENICITY CLASSIFICATION SUBSTITUTIONS MUTATIONS FRAMEWORK BRCA1 10.1186/s13073-022-01052-8 GENOME MEDICINE 14 1 2023-02-21T11:13:40Z 2023-02-21T11:13:40Z 2022-05-18 2023-02-21T06:54:45Z Article Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T, Fortuno, Cristina, Gonzalez-Neira, Anna, Heijl, Stephan M, Adank, Muriel A, Ahearn, Thomas U, Andrulis, Irene L, Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bremer, Michael, Briceno, Ignacio, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Collee, J Margriet, Czene, Kamila, Dennis, Joe, Dork, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guenel, Pascal, Gundert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hogervorst, Frans BL, Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N, Lakeman, Inge MM, Li, Jingmei, Lindblom, Annika, Loizidou, Maria A, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Madsen, Michael J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G, Oosterwijk, Jan C, Park, Sue K, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sim, Xueling, Southey, Melissa C, Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J, Waltes, Regina, Wang, Qin, Yang, Xiaohong R, Pharoah, Paul DP, Schmidt, Marjanka K, Benitez, Javier, Vroling, Bas, Dunning, Alison M, Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B, Vreeswijk, Maaike PG, Easton, Douglas F (2022-05-18). Breast cancer risks associated with missense variants in breast cancer susceptibility genes. GENOME MEDICINE 14 (1). ScholarBank@NUS Repository. https://doi.org/10.1186/s13073-022-01052-8 1756-994X https://scholarbank.nus.edu.sg/handle/10635/237389 en BMC Elements