Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers

CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific r...

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Autori principali: Schmidt, Marjanka K, Hogervorst, Frans, van, Hien Richard, Cornelissen, Sten, Broeks, Annegien, Adank, Muriel, Meijers, Hanne, Waisfisz, Quinten, Hollestelle, Antoinette, Schutte, Mieke, van, den Ouweland Ans, Hooning, Maartje, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Antoniou, Antonis, Arndt, Volker, Bermisheva, Marina, Bogdanova, Natalia V, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Dunning, Alison, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Galle, Eva, García-Closas, Montserrat, Giles, Graham G, Haeberle, Lothar, Hall, Per, Hillemanns, Peter, Hopper, John L, Jakubowska, Anna, John, Esther M, Jones, Michael, Khusnutdinova, Elza, Knight, Julia A, Kosma, Veli-Matti, Kristensen, Vessela, Lee, Andrew, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Meindl, Alfons, Milne, Roger L, Muranen, Taru A, NBCS, Investigators, Newcomb, Polly A, Offitt, Kenneth, Park-Simon, Tjoung-Won, Peto, Julian, Pharoah, Paul, Robson, Mark, Rudolph, Anja, Sawyer, Elinor J, Schmutzler, Rita K, Seynaeve, Caroline, Soens, Julie, Southey, Melissa C, Spurdle, Amanda, Surowy, Harald, Swerdlow, Anthony, Tollenaar, Rob AEM, Tomlinson, Ian, Trentham-Dietz, Amy, Vachon, Celine, Wang, Qin, Whittemore, Alice S, Ziogas, Argyrios, van, der Kolk Lizet, Nevanlinna, Heli, Dörk, Thilo, Bojesen, Stig, Easton, Douglas
Altri autori: Law Enforcement
Lingua:inglese
Pubblicazione: American Society of Clinical Oncology 2019
Accesso online:https://demo7.dspace.org/handle/123456789/442
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author Schmidt, Marjanka K
Hogervorst, Frans
van, Hien Richard
Cornelissen, Sten
Broeks, Annegien
Adank, Muriel
Meijers, Hanne
Waisfisz, Quinten
Hollestelle, Antoinette
Schutte, Mieke
van, den Ouweland Ans
Hooning, Maartje
Andrulis, Irene L
Anton-Culver, Hoda
Antonenkova, Natalia N
Antoniou, Antonis
Arndt, Volker
Bermisheva, Marina
Bogdanova, Natalia V
Bolla, Manjeet K
Brauch, Hiltrud
Brenner, Hermann
Brüning, Thomas
Burwinkel, Barbara
Chang-Claude, Jenny
Chenevix-Trench, Georgia
Couch, Fergus J
Cox, Angela
Cross, Simon S
Czene, Kamila
Dunning, Alison
Fasching, Peter A
Figueroa, Jonine
Fletcher, Olivia
Flyger, Henrik
Galle, Eva
García-Closas, Montserrat
Giles, Graham G
Haeberle, Lothar
Hall, Per
Hillemanns, Peter
Hopper, John L
Jakubowska, Anna
John, Esther M
Jones, Michael
Khusnutdinova, Elza
Knight, Julia A
Kosma, Veli-Matti
Kristensen, Vessela
Lee, Andrew
Lindblom, Annika
Lubinski, Jan
Mannermaa, Arto
Margolin, Sara
Meindl, Alfons
Milne, Roger L
Muranen, Taru A
NBCS, Investigators
Newcomb, Polly A
Offitt, Kenneth
Park-Simon, Tjoung-Won
Peto, Julian
Pharoah, Paul
Robson, Mark
Rudolph, Anja
Sawyer, Elinor J
Schmutzler, Rita K
Seynaeve, Caroline
Soens, Julie
Southey, Melissa C
Spurdle, Amanda
Surowy, Harald
Swerdlow, Anthony
Tollenaar, Rob AEM
Tomlinson, Ian
Trentham-Dietz, Amy
Vachon, Celine
Wang, Qin
Whittemore, Alice S
Ziogas, Argyrios
van, der Kolk Lizet
Nevanlinna, Heli
Dörk, Thilo
Bojesen, Stig
Easton, Douglas
author2 Law Enforcement
author_browse Adank, Muriel
Andrulis, Irene L
Anton-Culver, Hoda
Antonenkova, Natalia N
Antoniou, Antonis
Arndt, Volker
Bermisheva, Marina
Bogdanova, Natalia V
Bojesen, Stig
Bolla, Manjeet K
Brauch, Hiltrud
Brenner, Hermann
Broeks, Annegien
Brüning, Thomas
Burwinkel, Barbara
Chang-Claude, Jenny
Chenevix-Trench, Georgia
Cornelissen, Sten
Couch, Fergus J
Cox, Angela
Cross, Simon S
Czene, Kamila
Dunning, Alison
Dörk, Thilo
Easton, Douglas
Fasching, Peter A
Figueroa, Jonine
Fletcher, Olivia
Flyger, Henrik
Galle, Eva
García-Closas, Montserrat
Giles, Graham G
Haeberle, Lothar
Hall, Per
Hillemanns, Peter
Hogervorst, Frans
Hollestelle, Antoinette
Hooning, Maartje
Hopper, John L
Jakubowska, Anna
John, Esther M
Jones, Michael
Khusnutdinova, Elza
Knight, Julia A
Kosma, Veli-Matti
Kristensen, Vessela
Law Enforcement
Lee, Andrew
Lindblom, Annika
Lubinski, Jan
Mannermaa, Arto
Margolin, Sara
Meijers, Hanne
Meindl, Alfons
Milne, Roger L
Muranen, Taru A
NBCS, Investigators
Nevanlinna, Heli
Newcomb, Polly A
Offitt, Kenneth
Park-Simon, Tjoung-Won
Peto, Julian
Pharoah, Paul
Robson, Mark
Rudolph, Anja
Sawyer, Elinor J
Schmidt, Marjanka K
Schmutzler, Rita K
Schutte, Mieke
Seynaeve, Caroline
Soens, Julie
Southey, Melissa C
Spurdle, Amanda
Surowy, Harald
Swerdlow, Anthony
Tollenaar, Rob AEM
Tomlinson, Ian
Trentham-Dietz, Amy
Vachon, Celine
Waisfisz, Quinten
Wang, Qin
Whittemore, Alice S
Ziogas, Argyrios
van, Hien Richard
van, den Ouweland Ans
van, der Kolk Lizet
author_facet Law Enforcement
Schmidt, Marjanka K
Hogervorst, Frans
van, Hien Richard
Cornelissen, Sten
Broeks, Annegien
Adank, Muriel
Meijers, Hanne
Waisfisz, Quinten
Hollestelle, Antoinette
Schutte, Mieke
van, den Ouweland Ans
Hooning, Maartje
Andrulis, Irene L
Anton-Culver, Hoda
Antonenkova, Natalia N
Antoniou, Antonis
Arndt, Volker
Bermisheva, Marina
Bogdanova, Natalia V
Bolla, Manjeet K
Brauch, Hiltrud
Brenner, Hermann
Brüning, Thomas
Burwinkel, Barbara
Chang-Claude, Jenny
Chenevix-Trench, Georgia
Couch, Fergus J
Cox, Angela
Cross, Simon S
Czene, Kamila
Dunning, Alison
Fasching, Peter A
Figueroa, Jonine
Fletcher, Olivia
Flyger, Henrik
Galle, Eva
García-Closas, Montserrat
Giles, Graham G
Haeberle, Lothar
Hall, Per
Hillemanns, Peter
Hopper, John L
Jakubowska, Anna
John, Esther M
Jones, Michael
Khusnutdinova, Elza
Knight, Julia A
Kosma, Veli-Matti
Kristensen, Vessela
Lee, Andrew
Lindblom, Annika
Lubinski, Jan
Mannermaa, Arto
Margolin, Sara
Meindl, Alfons
Milne, Roger L
Muranen, Taru A
NBCS, Investigators
Newcomb, Polly A
Offitt, Kenneth
Park-Simon, Tjoung-Won
Peto, Julian
Pharoah, Paul
Robson, Mark
Rudolph, Anja
Sawyer, Elinor J
Schmutzler, Rita K
Seynaeve, Caroline
Soens, Julie
Southey, Melissa C
Spurdle, Amanda
Surowy, Harald
Swerdlow, Anthony
Tollenaar, Rob AEM
Tomlinson, Ian
Trentham-Dietz, Amy
Vachon, Celine
Wang, Qin
Whittemore, Alice S
Ziogas, Argyrios
van, der Kolk Lizet
Nevanlinna, Heli
Dörk, Thilo
Bojesen, Stig
Easton, Douglas
author_sort Schmidt, Marjanka K
collection DSpace
description CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates using data from the Breast Cancer Association Consortium, including 44,777 breast cancer patients and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (OR) for CHEK2*1100delC carriers versus non-carriers were estimated using logistic regression; adjusting for study (categorical) and age. Main analyses included invasive breast cancer patients from population- and hospital-based studies. The proportions of heterozygous CHEK2*1100delC carriers in controls, in breast cancer patients from population- and hospital-based studies, and in breast cancer patients from familial and clinical genetics center-based studies, were 0.5%, 1.3%, and 3.0% respectively. The estimated OR f or invasive breast cancer was 2.26 (95%CI:1.90-2.69; p=2.3x10^-20). The OR was higher f or estrogen receptor (ER)-positive disease 2.55 (95%CI:2.10-3.10; p=4.9x10^-21) than for ER-negative disease 1.32 (95%CI: 0.93-1.88; p=0.12) (p interaction=9.9x10^-4). The OR significantly declined with attained age for breast cancer overall (p=0.001) and for ER-positive tumors (p=0.001). Estimated cumulative risks for CHEK2*1100delC carriers for the development of ER-positive and ER-negative tumors by age 80 were respectively 20% and 3%, compared with 9% and 2% in the UK general population. These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models, and into guidelines for intensified screening and follow-up.
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institution DSPACE.FCHPT
language English
publishDate 2019
publishDateRange 2019
publishDateSort 2019
publisher American Society of Clinical Oncology
publisherStr American Society of Clinical Oncology
record_format dspace
spelling oai:localhost:123456789-4422021-04-07T16:30:12Z Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers Schmidt, Marjanka K Hogervorst, Frans van, Hien Richard Cornelissen, Sten Broeks, Annegien Adank, Muriel Meijers, Hanne Waisfisz, Quinten Hollestelle, Antoinette Schutte, Mieke van, den Ouweland Ans Hooning, Maartje Andrulis, Irene L Anton-Culver, Hoda Antonenkova, Natalia N Antoniou, Antonis Arndt, Volker Bermisheva, Marina Bogdanova, Natalia V Bolla, Manjeet K Brauch, Hiltrud Brenner, Hermann Brüning, Thomas Burwinkel, Barbara Chang-Claude, Jenny Chenevix-Trench, Georgia Couch, Fergus J Cox, Angela Cross, Simon S Czene, Kamila Dunning, Alison Fasching, Peter A Figueroa, Jonine Fletcher, Olivia Flyger, Henrik Galle, Eva García-Closas, Montserrat Giles, Graham G Haeberle, Lothar Hall, Per Hillemanns, Peter Hopper, John L Jakubowska, Anna John, Esther M Jones, Michael Khusnutdinova, Elza Knight, Julia A Kosma, Veli-Matti Kristensen, Vessela Lee, Andrew Lindblom, Annika Lubinski, Jan Mannermaa, Arto Margolin, Sara Meindl, Alfons Milne, Roger L Muranen, Taru A NBCS, Investigators Newcomb, Polly A Offitt, Kenneth Park-Simon, Tjoung-Won Peto, Julian Pharoah, Paul Robson, Mark Rudolph, Anja Sawyer, Elinor J Schmutzler, Rita K Seynaeve, Caroline Soens, Julie Southey, Melissa C Spurdle, Amanda Surowy, Harald Swerdlow, Anthony Tollenaar, Rob AEM Tomlinson, Ian Trentham-Dietz, Amy Vachon, Celine Wang, Qin Whittemore, Alice S Ziogas, Argyrios van, der Kolk Lizet Nevanlinna, Heli Dörk, Thilo Bojesen, Stig Easton, Douglas Law Enforcement Law and Development Personal Rights & Property Rights Government & Law Business & Law CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates using data from the Breast Cancer Association Consortium, including 44,777 breast cancer patients and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (OR) for CHEK2*1100delC carriers versus non-carriers were estimated using logistic regression; adjusting for study (categorical) and age. Main analyses included invasive breast cancer patients from population- and hospital-based studies. The proportions of heterozygous CHEK2*1100delC carriers in controls, in breast cancer patients from population- and hospital-based studies, and in breast cancer patients from familial and clinical genetics center-based studies, were 0.5%, 1.3%, and 3.0% respectively. The estimated OR f or invasive breast cancer was 2.26 (95%CI:1.90-2.69; p=2.3x10^-20). The OR was higher f or estrogen receptor (ER)-positive disease 2.55 (95%CI:2.10-3.10; p=4.9x10^-21) than for ER-negative disease 1.32 (95%CI: 0.93-1.88; p=0.12) (p interaction=9.9x10^-4). The OR significantly declined with attained age for breast cancer overall (p=0.001) and for ER-positive tumors (p=0.001). Estimated cumulative risks for CHEK2*1100delC carriers for the development of ER-positive and ER-negative tumors by age 80 were respectively 20% and 3%, compared with 9% and 2% in the UK general population. These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models, and into guidelines for intensified screening and follow-up. 2019-04-26T08:57:00Z 2019-04-26T08:57:00Z 2016 https://demo7.dspace.org/handle/123456789/442 en American Society of Clinical Oncology
spellingShingle Schmidt, Marjanka K
Hogervorst, Frans
van, Hien Richard
Cornelissen, Sten
Broeks, Annegien
Adank, Muriel
Meijers, Hanne
Waisfisz, Quinten
Hollestelle, Antoinette
Schutte, Mieke
van, den Ouweland Ans
Hooning, Maartje
Andrulis, Irene L
Anton-Culver, Hoda
Antonenkova, Natalia N
Antoniou, Antonis
Arndt, Volker
Bermisheva, Marina
Bogdanova, Natalia V
Bolla, Manjeet K
Brauch, Hiltrud
Brenner, Hermann
Brüning, Thomas
Burwinkel, Barbara
Chang-Claude, Jenny
Chenevix-Trench, Georgia
Couch, Fergus J
Cox, Angela
Cross, Simon S
Czene, Kamila
Dunning, Alison
Fasching, Peter A
Figueroa, Jonine
Fletcher, Olivia
Flyger, Henrik
Galle, Eva
García-Closas, Montserrat
Giles, Graham G
Haeberle, Lothar
Hall, Per
Hillemanns, Peter
Hopper, John L
Jakubowska, Anna
John, Esther M
Jones, Michael
Khusnutdinova, Elza
Knight, Julia A
Kosma, Veli-Matti
Kristensen, Vessela
Lee, Andrew
Lindblom, Annika
Lubinski, Jan
Mannermaa, Arto
Margolin, Sara
Meindl, Alfons
Milne, Roger L
Muranen, Taru A
NBCS, Investigators
Newcomb, Polly A
Offitt, Kenneth
Park-Simon, Tjoung-Won
Peto, Julian
Pharoah, Paul
Robson, Mark
Rudolph, Anja
Sawyer, Elinor J
Schmutzler, Rita K
Seynaeve, Caroline
Soens, Julie
Southey, Melissa C
Spurdle, Amanda
Surowy, Harald
Swerdlow, Anthony
Tollenaar, Rob AEM
Tomlinson, Ian
Trentham-Dietz, Amy
Vachon, Celine
Wang, Qin
Whittemore, Alice S
Ziogas, Argyrios
van, der Kolk Lizet
Nevanlinna, Heli
Dörk, Thilo
Bojesen, Stig
Easton, Douglas
Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
title Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
title_full Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
title_fullStr Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
title_full_unstemmed Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
title_short Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
title_sort age and tumor subtype specific breast cancer risk estimates for chek2 1100delc carriers
url https://demo7.dspace.org/handle/123456789/442
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