Two truncating variants in FANCC and breast cancer risk.
Dörk, T
Peterlongo, P
Mannermaa, A
Bolla, MK
Wang, Q
Dennis, J
Ahearn, T
Andrulis, IL
Anton-Culver, H
Arndt, V
Aronson, KJ
Augustinsson, A
Freeman, LEB
Beckmann, MW
Beeghly-Fadiel, A
Behrens, S
Bermisheva, M
Blomqvist, C
Bogdanova, NV
Bojesen, SE
Brauch, H
Brenner, H
Burwinkel, B
Canzian, F
Chan, TL
Chang-Claude, J
Chanock, SJ
Choi, J-Y
Christiansen, H
Clarke, CL
Couch, FJ
Czene, K
Daly, MB
Dos-Santos-Silva, I
Dwek, M
Eccles, DM
Ekici, AB
Eriksson, M
Evans, DG
Fasching, PA
Figueroa, J
Flyger, H
Fritschi, L
Gabrielson, M
Gago-Dominguez, M
Gao, C
Gapstur, SM
García-Closas, M
García-Sáenz, JA
Gaudet, MM
Giles, GG
Goldberg, MS
Goldgar, DE
Guénel, P
Haeberle, L
Haiman, CA
Håkansson, N
Hall, P
Hamann, U
Hartman, M
Hauke, J
Hein, A
Hillemanns, P
Hogervorst, FBL
Hooning, MJ
Hopper, JL
Howell, T
Huo, D
Ito, H
Iwasaki, M
Jakubowska, A
Janni, W
John, EM
Jung, A
Kaaks, R
Kang, D
Kapoor, PM
Khusnutdinova, E
Kim, S-W
Kitahara, CM
Koutros, S
Kraft, P
Kristensen, VN
Kwong, A
Lambrechts, D
Marchand, LL
Li, J
Lindström, S
Linet, M
Lo, W-Y
Long, J
Lophatananon, A
Lubiński, J
Manoochehri, M
Manoukian, S
Margolin, S
Martinez, E
Matsuo, K
Mavroudis, D
Meindl, A
Menon, U
Milne, RL
Mohd Taib, NA
Muir, K
Mulligan, AM
Neuhausen, SL
Nevanlinna, H
Neven, P
Newman, WG
Offit, K
Olopade, OI
Olshan, AF
Olson, JE
Olsson, H
Park, SK
Park-Simon, T-W
Peto, J
Plaseska-Karanfilska, D
Pohl-Rescigno, E
Presneau, N
Rack, B
Radice, P
Rashid, MU
Rennert, G
Rennert, HS
Romero, A
Ruebner, M
Saloustros, E
Schmidt, MK
Schmutzler, RK
Schneider, MO
Schoemaker, MJ
Scott, C
Shen, C-Y
Shu, X-O
Simard, J
Slager, S
Smichkoska, S
Southey, MC
Spinelli, JJ
Stone, J
Surowy, H
Swerdlow, AJ
Tamimi, RM
Tapper, WJ
Teo, SH
Terry, MB
Toland, AE
Tollenaar, RAEM
Torres, D
Torres-Mejía, G
Troester, MA
Truong, T
Tsugane, S
Untch, M
Vachon, CM
Ouweland, AMWVD
Veen, EMV
Vijai, J
Wendt, C
Wolk, A
Yu, J-C
Zheng, W
Ziogas, A
Ziv, E
ABCTB Investigators,
NBCS Collaborators,
Dunning, AM
Pharoah, PDP
Schindler, D
Devilee, P
Easton, DF
- Publisher:
- Springer Science and Business Media LLC
- Publication Type:
- Journal Article
- Citation:
- Scientific reports, 2019, 9, (1), pp. 12524
- Issue Date:
- 2019-08-29
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Dörk, T | |
dc.contributor.author | Peterlongo, P | |
dc.contributor.author | Mannermaa, A | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Ahearn, T | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Anton-Culver, H | |
dc.contributor.author | Arndt, V | |
dc.contributor.author | Aronson, KJ | |
dc.contributor.author | Augustinsson, A | |
dc.contributor.author | Freeman, LEB | |
dc.contributor.author | Beckmann, MW | |
dc.contributor.author | Beeghly-Fadiel, A | |
dc.contributor.author | Behrens, S | |
dc.contributor.author | Bermisheva, M | |
dc.contributor.author | Blomqvist, C | |
dc.contributor.author | Bogdanova, NV | |
dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Canzian, F | |
dc.contributor.author | Chan, TL | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | Chanock, SJ | |
dc.contributor.author | Choi, J-Y | |
dc.contributor.author | Christiansen, H | |
dc.contributor.author | Clarke, CL | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Daly, MB | |
dc.contributor.author | Dos-Santos-Silva, I | |
dc.contributor.author | Dwek, M | |
dc.contributor.author | Eccles, DM | |
dc.contributor.author | Ekici, AB | |
dc.contributor.author | Eriksson, M | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Figueroa, J | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Fritschi, L | |
dc.contributor.author | Gabrielson, M | |
dc.contributor.author | Gago-Dominguez, M | |
dc.contributor.author | Gao, C | |
dc.contributor.author | Gapstur, SM | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | García-Sáenz, JA | |
dc.contributor.author | Gaudet, MM | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Goldberg, MS | |
dc.contributor.author | Goldgar, DE | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Haeberle, L | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Håkansson, N | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Hartman, M | |
dc.contributor.author | Hauke, J | |
dc.contributor.author | Hein, A | |
dc.contributor.author | Hillemanns, P | |
dc.contributor.author | Hogervorst, FBL | |
dc.contributor.author | Hooning, MJ | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Howell, T | |
dc.contributor.author | Huo, D | |
dc.contributor.author | Ito, H | |
dc.contributor.author | Iwasaki, M | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | Janni, W | |
dc.contributor.author | John, EM | |
dc.contributor.author | Jung, A | |
dc.contributor.author | Kaaks, R | |
dc.contributor.author | Kang, D | |
dc.contributor.author | Kapoor, PM | |
dc.contributor.author | Khusnutdinova, E | |
dc.contributor.author | Kim, S-W | |
dc.contributor.author | Kitahara, CM | |
dc.contributor.author | Koutros, S | |
dc.contributor.author | Kraft, P | |
dc.contributor.author | Kristensen, VN | |
dc.contributor.author | Kwong, A | |
dc.contributor.author | Lambrechts, D | |
dc.contributor.author | Marchand, LL | |
dc.contributor.author | Li, J | |
dc.contributor.author | Lindström, S | |
dc.contributor.author | Linet, M | |
dc.contributor.author | Lo, W-Y | |
dc.contributor.author | Long, J | |
dc.contributor.author | Lophatananon, A | |
dc.contributor.author | Lubiński, J | |
dc.contributor.author | Manoochehri, M | |
dc.contributor.author | Manoukian, S | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Martinez, E | |
dc.contributor.author | Matsuo, K | |
dc.contributor.author | Mavroudis, D | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Menon, U | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Mohd Taib, NA | |
dc.contributor.author | Muir, K | |
dc.contributor.author | Mulligan, AM | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Neven, P | |
dc.contributor.author | Newman, WG | |
dc.contributor.author | Offit, K | |
dc.contributor.author | Olopade, OI | |
dc.contributor.author | Olshan, AF | |
dc.contributor.author | Olson, JE | |
dc.contributor.author | Olsson, H | |
dc.contributor.author | Park, SK | |
dc.contributor.author | Park-Simon, T-W | |
dc.contributor.author | Peto, J | |
dc.contributor.author | Plaseska-Karanfilska, D | |
dc.contributor.author | Pohl-Rescigno, E | |
dc.contributor.author | Presneau, N | |
dc.contributor.author | Rack, B | |
dc.contributor.author | Radice, P | |
dc.contributor.author | Rashid, MU | |
dc.contributor.author | Rennert, G | |
dc.contributor.author | Rennert, HS | |
dc.contributor.author | Romero, A | |
dc.contributor.author | Ruebner, M | |
dc.contributor.author | Saloustros, E | |
dc.contributor.author | Schmidt, MK | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Schneider, MO | |
dc.contributor.author | Schoemaker, MJ | |
dc.contributor.author | Scott, C | |
dc.contributor.author | Shen, C-Y | |
dc.contributor.author | Shu, X-O | |
dc.contributor.author | Simard, J | |
dc.contributor.author | Slager, S | |
dc.contributor.author | Smichkoska, S | |
dc.contributor.author | Southey, MC | |
dc.contributor.author | Spinelli, JJ | |
dc.contributor.author | Stone, J | |
dc.contributor.author | Surowy, H | |
dc.contributor.author | Swerdlow, AJ | |
dc.contributor.author | Tamimi, RM | |
dc.contributor.author | Tapper, WJ | |
dc.contributor.author | Teo, SH | |
dc.contributor.author | Terry, MB | |
dc.contributor.author | Toland, AE | |
dc.contributor.author | Tollenaar, RAEM | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Torres-Mejía, G | |
dc.contributor.author | Troester, MA | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Tsugane, S | |
dc.contributor.author | Untch, M | |
dc.contributor.author | Vachon, CM | |
dc.contributor.author | Ouweland, AMWVD | |
dc.contributor.author | Veen, EMV | |
dc.contributor.author | Vijai, J | |
dc.contributor.author | Wendt, C | |
dc.contributor.author | Wolk, A | |
dc.contributor.author | Yu, J-C | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Ziogas, A | |
dc.contributor.author | Ziv, E | |
dc.contributor.author | ABCTB Investigators, | |
dc.contributor.author | NBCS Collaborators, | |
dc.contributor.author | Dunning, AM | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Schindler, D | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | Easton, DF | |
dc.date.accessioned | 2021-03-23T06:59:03Z | |
dc.date.available | 2019-08-09 | |
dc.date.available | 2021-03-23T06:59:03Z | |
dc.date.issued | 2019-08-29 | |
dc.identifier.citation | Scientific reports, 2019, 9, (1), pp. 12524 | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10453/147489 | |
dc.description.abstract | Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants. | |
dc.format | Electronic | |
dc.language | eng | |
dc.publisher | Springer Science and Business Media LLC | |
dc.relation.ispartof | Scientific reports | |
dc.relation.isbasedon | 10.1038/s41598-019-48804-y | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights | This is a post-peer-review, pre-copyedit version of an article published in Scientific reports. The final authenticated version is available online at: https://dx.doi.org/10.1038/s41598-019-48804-y. | en_US |
dc.subject.mesh | Humans | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Fanconi Anemia | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | BRCA1 Protein | |
dc.subject.mesh | BRCA2 Protein | |
dc.subject.mesh | Case-Control Studies | |
dc.subject.mesh | Sequence Deletion | |
dc.subject.mesh | Female | |
dc.subject.mesh | Fanconi Anemia Complementation Group C Protein | |
dc.subject.mesh | Genetic Variation | |
dc.subject.mesh | BRCA1 Protein | |
dc.subject.mesh | BRCA2 Protein | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Case-Control Studies | |
dc.subject.mesh | Fanconi Anemia | |
dc.subject.mesh | Fanconi Anemia Complementation Group C Protein | |
dc.subject.mesh | Female | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | Genetic Variation | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Sequence Deletion | |
dc.title | Two truncating variants in FANCC and breast cancer risk. | |
dc.type | Journal Article | |
utslib.citation.volume | 9 | |
utslib.location.activity | England | |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science | |
pubs.organisational-group | /University of Technology Sydney/Strength - CHT - Health Technologies | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science/School of Life Sciences | |
utslib.copyright.status | open_access | * |
dc.date.updated | 2021-03-23T06:58:56Z | |
pubs.issue | 1 | |
pubs.publication-status | Published | |
pubs.volume | 9 | |
utslib.citation.issue | 1 |
Abstract:
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
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