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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. / Figlioli, Gisella; Billaud, Amandine; Ahearn, Thomas U; Antonenkova, Natalia N; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blok, Marinus J; Bogdanova, Natalia V; Bonanni, Bernardo; Burwinkel, Barbara; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chanock, Stephen J; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine D; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; González-Neira, Anna; Grassmann, Felix; Guénel, Pascal; Gündert, Melanie; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Harrington, Patricia A; He, Wei; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Jager, Agnes; Jakubowska, Anna; Khusnutdinova, Elza K; Ko, Yon-Dschun; Kristensen, Vessela N; Lindblom, Annika; Lissowska, Jolanta; Lubiński, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Mavroudis, Dimitrios; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Rashid, Muhammad U; Rhenius, Valerie; Rookus, Matti A; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sironen, Reijo; Southey, Melissa C; Suvanto, Maija; Tollenaar, Rob A E M; Tomlinson, Ian; Truong, Thérèse; van der Kolk, Lizet E; van Veen, Elke M; Wappenschmidt, Barbara; Yang, Xiaohong R; Bolla, Manjeet K; Dennis, Joe; Dunning, Alison M; Easton, Douglas F; Lush, Michael; Michailidou, Kyriaki; Pharoah, Paul D P; Adank, Muriel A; Schmidt, Marjanka K; Andrulis, Irene L; Chang-Claude, Jenny; Nevanlinna, Heli; Chenevix-Trench, Georgia; Evans, D Gareth; Milne, Roger L; Radice, Paolo; Peterlongo, Paolo; NBCS Collaborators.

In: EUR J HUM GENET, Vol. 31, No. 5, 05.2023, p. 578-587.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Figlioli, G, Billaud, A, Ahearn, TU, Antonenkova, NN, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Blok, MJ, Bogdanova, NV, Bonanni, B, Burwinkel, B, Camp, NJ, Campbell, A, Castelao, JE, Cessna, MH, Chanock, SJ, Czene, K, Devilee, P, Dörk, T, Engel, C, Eriksson, M, Fasching, PA, Figueroa, JD, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, González-Neira, A, Grassmann, F, Guénel, P, Gündert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harrington, PA, He, W, Hillemanns, P, Hollestelle, A, Hooning, MJ, Hoppe, R, Howell, A, Humphreys, K, Jager, A, Jakubowska, A, Khusnutdinova, EK, Ko, Y-D, Kristensen, VN, Lindblom, A, Lissowska, J, Lubiński, J, Mannermaa, A, Manoukian, S, Margolin, S, Mavroudis, D, Newman, WG, Obi, N, Panayiotidis, MI, Rashid, MU, Rhenius, V, Rookus, MA, Saloustros, E, Sawyer, EJ, Schmutzler, RK, Shah, M, Sironen, R, Southey, MC, Suvanto, M, Tollenaar, RAEM, Tomlinson, I, Truong, T, van der Kolk, LE, van Veen, EM, Wappenschmidt, B, Yang, XR, Bolla, MK, Dennis, J, Dunning, AM, Easton, DF, Lush, M, Michailidou, K, Pharoah, PDP, Adank, MA, Schmidt, MK, Andrulis, IL, Chang-Claude, J, Nevanlinna, H, Chenevix-Trench, G, Evans, DG, Milne, RL, Radice, P, Peterlongo, P & NBCS Collaborators 2023, 'FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women', EUR J HUM GENET, vol. 31, no. 5, pp. 578-587. https://doi.org/10.1038/s41431-022-01257-w

APA

Figlioli, G., Billaud, A., Ahearn, T. U., Antonenkova, N. N., Becher, H., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blok, M. J., Bogdanova, N. V., Bonanni, B., Burwinkel, B., Camp, N. J., Campbell, A., Castelao, J. E., Cessna, M. H., Chanock, S. J., Czene, K., ... NBCS Collaborators (2023). FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. EUR J HUM GENET, 31(5), 578-587. https://doi.org/10.1038/s41431-022-01257-w

Vancouver

Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann MW et al. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. EUR J HUM GENET. 2023 May;31(5):578-587. https://doi.org/10.1038/s41431-022-01257-w

Bibtex

@article{1cad52d614ac4cfab179032951b0b406,
title = "FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women",
abstract = "Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.",
author = "Gisella Figlioli and Amandine Billaud and Ahearn, {Thomas U} and Antonenkova, {Natalia N} and Heiko Becher and Beckmann, {Matthias W} and Sabine Behrens and Javier Benitez and Marina Bermisheva and Blok, {Marinus J} and Bogdanova, {Natalia V} and Bernardo Bonanni and Barbara Burwinkel and Camp, {Nicola J} and Archie Campbell and Castelao, {Jose E} and Cessna, {Melissa H} and Chanock, {Stephen J} and Kamila Czene and Peter Devilee and Thilo D{\"o}rk and Christoph Engel and Mikael Eriksson and Fasching, {Peter A} and Figueroa, {Jonine D} and Marike Gabrielson and Manuela Gago-Dominguez and Montserrat Garc{\'i}a-Closas and Anna Gonz{\'a}lez-Neira and Felix Grassmann and Pascal Gu{\'e}nel and Melanie G{\"u}ndert and Andreas Hadjisavvas and Eric Hahnen and Per Hall and Ute Hamann and Harrington, {Patricia A} and Wei He and Peter Hillemanns and Antoinette Hollestelle and Hooning, {Maartje J} and Reiner Hoppe and Anthony Howell and Keith Humphreys and Agnes Jager and Anna Jakubowska and Khusnutdinova, {Elza K} and Yon-Dschun Ko and Kristensen, {Vessela N} and Annika Lindblom and Jolanta Lissowska and Jan Lubi{\'n}ski and Arto Mannermaa and Siranoush Manoukian and Sara Margolin and Dimitrios Mavroudis and Newman, {William G} and Nadia Obi and Panayiotidis, {Mihalis I} and Rashid, {Muhammad U} and Valerie Rhenius and Rookus, {Matti A} and Emmanouil Saloustros and Sawyer, {Elinor J} and Schmutzler, {Rita K} and Mitul Shah and Reijo Sironen and Southey, {Melissa C} and Maija Suvanto and Tollenaar, {Rob A E M} and Ian Tomlinson and Th{\'e}r{\`e}se Truong and {van der Kolk}, {Lizet E} and {van Veen}, {Elke M} and Barbara Wappenschmidt and Yang, {Xiaohong R} and Bolla, {Manjeet K} and Joe Dennis and Dunning, {Alison M} and Easton, {Douglas F} and Michael Lush and Kyriaki Michailidou and Pharoah, {Paul D P} and Adank, {Muriel A} and Schmidt, {Marjanka K} and Andrulis, {Irene L} and Jenny Chang-Claude and Heli Nevanlinna and Georgia Chenevix-Trench and Evans, {D Gareth} and Milne, {Roger L} and Paolo Radice and Paolo Peterlongo and {NBCS Collaborators}",
note = "{\textcopyright} 2023. The Author(s).",
year = "2023",
month = may,
doi = "10.1038/s41431-022-01257-w",
language = "English",
volume = "31",
pages = "578--587",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "5",

}

RIS

TY - JOUR

T1 - FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

AU - Figlioli, Gisella

AU - Billaud, Amandine

AU - Ahearn, Thomas U

AU - Antonenkova, Natalia N

AU - Becher, Heiko

AU - Beckmann, Matthias W

AU - Behrens, Sabine

AU - Benitez, Javier

AU - Bermisheva, Marina

AU - Blok, Marinus J

AU - Bogdanova, Natalia V

AU - Bonanni, Bernardo

AU - Burwinkel, Barbara

AU - Camp, Nicola J

AU - Campbell, Archie

AU - Castelao, Jose E

AU - Cessna, Melissa H

AU - Chanock, Stephen J

AU - Czene, Kamila

AU - Devilee, Peter

AU - Dörk, Thilo

AU - Engel, Christoph

AU - Eriksson, Mikael

AU - Fasching, Peter A

AU - Figueroa, Jonine D

AU - Gabrielson, Marike

AU - Gago-Dominguez, Manuela

AU - García-Closas, Montserrat

AU - González-Neira, Anna

AU - Grassmann, Felix

AU - Guénel, Pascal

AU - Gündert, Melanie

AU - Hadjisavvas, Andreas

AU - Hahnen, Eric

AU - Hall, Per

AU - Hamann, Ute

AU - Harrington, Patricia A

AU - He, Wei

AU - Hillemanns, Peter

AU - Hollestelle, Antoinette

AU - Hooning, Maartje J

AU - Hoppe, Reiner

AU - Howell, Anthony

AU - Humphreys, Keith

AU - Jager, Agnes

AU - Jakubowska, Anna

AU - Khusnutdinova, Elza K

AU - Ko, Yon-Dschun

AU - Kristensen, Vessela N

AU - Lindblom, Annika

AU - Lissowska, Jolanta

AU - Lubiński, Jan

AU - Mannermaa, Arto

AU - Manoukian, Siranoush

AU - Margolin, Sara

AU - Mavroudis, Dimitrios

AU - Newman, William G

AU - Obi, Nadia

AU - Panayiotidis, Mihalis I

AU - Rashid, Muhammad U

AU - Rhenius, Valerie

AU - Rookus, Matti A

AU - Saloustros, Emmanouil

AU - Sawyer, Elinor J

AU - Schmutzler, Rita K

AU - Shah, Mitul

AU - Sironen, Reijo

AU - Southey, Melissa C

AU - Suvanto, Maija

AU - Tollenaar, Rob A E M

AU - Tomlinson, Ian

AU - Truong, Thérèse

AU - van der Kolk, Lizet E

AU - van Veen, Elke M

AU - Wappenschmidt, Barbara

AU - Yang, Xiaohong R

AU - Bolla, Manjeet K

AU - Dennis, Joe

AU - Dunning, Alison M

AU - Easton, Douglas F

AU - Lush, Michael

AU - Michailidou, Kyriaki

AU - Pharoah, Paul D P

AU - Adank, Muriel A

AU - Schmidt, Marjanka K

AU - Andrulis, Irene L

AU - Chang-Claude, Jenny

AU - Nevanlinna, Heli

AU - Chenevix-Trench, Georgia

AU - Evans, D Gareth

AU - Milne, Roger L

AU - Radice, Paolo

AU - Peterlongo, Paolo

AU - NBCS Collaborators

N1 - © 2023. The Author(s).

PY - 2023/5

Y1 - 2023/5

N2 - Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.

AB - Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.

U2 - 10.1038/s41431-022-01257-w

DO - 10.1038/s41431-022-01257-w

M3 - SCORING: Journal article

C2 - 36707629

VL - 31

SP - 578

EP - 587

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 5

ER -