Research ExplorerPublicationsSpectrum and Frequency of Germline FANCM Protein-Truncating ...

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Standard

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases. / Figlioli, Gisella; Billaud, Amandine; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Lush, Michael; Kvist, Anders; Adank, Muriel A; Ahearn, Thomas U; Antonenkova, Natalia N; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; Gómez Garcia, Encarna B; González-Neira, Anna; Grassmann, Felix; Guénel, Pascal; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Jakubowska, Anna; Khusnutdinova, Elza K; Kristensen, Vessela N; Lindblom, Annika; Loizidou, Maria A; Lubiński, Jan; Mannermaa, Arto; Maurer, Tabea; Mavroudis, Dimitrios; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Radice, Paolo; Rashid, Muhammad U; Rhenius, Valerie; Ruebner, Matthias; Saloustros, Emmanouil; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Shah, Mitul; Southey, Melissa C; Tomlinson, Ian; Truong, Thérèse; van Veen, Elke M; Wendt, Camilla; Yang, Xiaohong R; Michailidou, Kyriaki; Dunning, Alison M; Pharoah, Paul D P; Easton, Douglas F; Andrulis, Irene L; Evans, D Gareth; Hollestelle, Antoinette; Chang-Claude, Jenny; Milne, Roger L; Peterlongo, Paolo; NBCS Collaborators; KConFab Investigators.

In: CANCERS, Vol. 15, No. 13, 3313, 23.06.2023.

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

Harvard

Figlioli, G, Billaud, A, Wang, Q, Bolla, MK, Dennis, J, Lush, M, Kvist, A, Adank, MA, Ahearn, TU, Antonenkova, NN, Auvinen, P, Behrens, S, Bermisheva, M, Bogdanova, NV, Bojesen, SE, Bonanni, B, Brüning, T, Camp, NJ, Campbell, A, Castelao, JE, Cessna, MH, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, PA, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Glendon, G, Gómez Garcia, EB, González-Neira, A, Grassmann, F, Guénel, P, Hahnen, E, Hamann, U, Hillemanns, P, Hooning, MJ, Hoppe, R, Howell, A, Humphreys, K, Jakubowska, A, Khusnutdinova, EK, Kristensen, VN, Lindblom, A, Loizidou, MA, Lubiński, J, Mannermaa, A, Maurer, T, Mavroudis, D, Newman, WG, Obi, N, Panayiotidis, MI, Radice, P, Rashid, MU, Rhenius, V, Ruebner, M, Saloustros, E, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Shah, M, Southey, MC, Tomlinson, I, Truong, T, van Veen, EM, Wendt, C, Yang, XR, Michailidou, K, Dunning, AM, Pharoah, PDP, Easton, DF, Andrulis, IL, Evans, DG, Hollestelle, A, Chang-Claude, J, Milne, RL, Peterlongo, P, NBCS Collaborators & KConFab Investigators 2023, 'Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases', CANCERS, vol. 15, no. 13, 3313. https://doi.org/10.3390/cancers15133313

APA

Figlioli, G., Billaud, A., Wang, Q., Bolla, M. K., Dennis, J., Lush, M., Kvist, A., Adank, M. A., Ahearn, T. U., Antonenkova, N. N., Auvinen, P., Behrens, S., Bermisheva, M., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brüning, T., Camp, N. J., Campbell, A., ... KConFab Investigators (2023). Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases. CANCERS, 15(13), [3313]. https://doi.org/10.3390/cancers15133313

Vancouver

Figlioli G, Billaud A, Wang Q, Bolla MK, Dennis J, Lush M et al. Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases. CANCERS. 2023 Jun 23;15(13). 3313. https://doi.org/10.3390/cancers15133313

Bibtex

@article{89b37a4c72444053a9324675511a847d,
title = "Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases",
abstract = "FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous than those from Northeastern Europe. These findings will inform the development of more efficient FANCM genetic testing strategies for breast cancer cases from specific European populations.",
author = "Gisella Figlioli and Amandine Billaud and Qin Wang and Bolla, {Manjeet K} and Joe Dennis and Michael Lush and Anders Kvist and Adank, {Muriel A} and Ahearn, {Thomas U} and Antonenkova, {Natalia N} and P{\"a}ivi Auvinen and Sabine Behrens and Marina Bermisheva and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Bernardo Bonanni and Thomas Br{\"u}ning and Camp, {Nicola J} and Archie Campbell and Castelao, {Jose E} and Cessna, {Melissa H} and Kamila Czene and Peter Devilee and Thilo D{\"o}rk and Mikael Eriksson and Fasching, {Peter A} and Henrik Flyger and Marike Gabrielson and Manuela Gago-Dominguez and Montserrat Garc{\'i}a-Closas and Gord Glendon and {G{\'o}mez Garcia}, {Encarna B} and Anna Gonz{\'a}lez-Neira and Felix Grassmann and Pascal Gu{\'e}nel and Eric Hahnen and Ute Hamann and Peter Hillemanns and Hooning, {Maartje J} and Reiner Hoppe and Anthony Howell and Keith Humphreys and Anna Jakubowska and Khusnutdinova, {Elza K} and Kristensen, {Vessela N} and Annika Lindblom and Loizidou, {Maria A} and Jan Lubi{\'n}ski and Arto Mannermaa and Tabea Maurer and Dimitrios Mavroudis and Newman, {William G} and Nadia Obi and Panayiotidis, {Mihalis I} and Paolo Radice and Rashid, {Muhammad U} and Valerie Rhenius and Matthias Ruebner and Emmanouil Saloustros and Sawyer, {Elinor J} and Schmidt, {Marjanka K} and Schmutzler, {Rita K} and Mitul Shah and Southey, {Melissa C} and Ian Tomlinson and Th{\'e}r{\`e}se Truong and {van Veen}, {Elke M} and Camilla Wendt and Yang, {Xiaohong R} and Kyriaki Michailidou and Dunning, {Alison M} and Pharoah, {Paul D P} and Easton, {Douglas F} and Andrulis, {Irene L} and Evans, {D Gareth} and Antoinette Hollestelle and Jenny Chang-Claude and Milne, {Roger L} and Paolo Peterlongo and {NBCS Collaborators} and {KConFab Investigators}",
year = "2023",
month = jun,
day = "23",
doi = "10.3390/cancers15133313",
language = "English",
volume = "15",
journal = "CANCERS",
issn = "2072-6694",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "13",

}

RIS

TY - JOUR

T1 - Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

AU - Figlioli, Gisella

AU - Billaud, Amandine

AU - Wang, Qin

AU - Bolla, Manjeet K

AU - Dennis, Joe

AU - Lush, Michael

AU - Kvist, Anders

AU - Adank, Muriel A

AU - Ahearn, Thomas U

AU - Antonenkova, Natalia N

AU - Auvinen, Päivi

AU - Behrens, Sabine

AU - Bermisheva, Marina

AU - Bogdanova, Natalia V

AU - Bojesen, Stig E

AU - Bonanni, Bernardo

AU - Brüning, Thomas

AU - Camp, Nicola J

AU - Campbell, Archie

AU - Castelao, Jose E

AU - Cessna, Melissa H

AU - Czene, Kamila

AU - Devilee, Peter

AU - Dörk, Thilo

AU - Eriksson, Mikael

AU - Fasching, Peter A

AU - Flyger, Henrik

AU - Gabrielson, Marike

AU - Gago-Dominguez, Manuela

AU - García-Closas, Montserrat

AU - Glendon, Gord

AU - Gómez Garcia, Encarna B

AU - González-Neira, Anna

AU - Grassmann, Felix

AU - Guénel, Pascal

AU - Hahnen, Eric

AU - Hamann, Ute

AU - Hillemanns, Peter

AU - Hooning, Maartje J

AU - Hoppe, Reiner

AU - Howell, Anthony

AU - Humphreys, Keith

AU - Jakubowska, Anna

AU - Khusnutdinova, Elza K

AU - Kristensen, Vessela N

AU - Lindblom, Annika

AU - Loizidou, Maria A

AU - Lubiński, Jan

AU - Mannermaa, Arto

AU - Maurer, Tabea

AU - Mavroudis, Dimitrios

AU - Newman, William G

AU - Obi, Nadia

AU - Panayiotidis, Mihalis I

AU - Radice, Paolo

AU - Rashid, Muhammad U

AU - Rhenius, Valerie

AU - Ruebner, Matthias

AU - Saloustros, Emmanouil

AU - Sawyer, Elinor J

AU - Schmidt, Marjanka K

AU - Schmutzler, Rita K

AU - Shah, Mitul

AU - Southey, Melissa C

AU - Tomlinson, Ian

AU - Truong, Thérèse

AU - van Veen, Elke M

AU - Wendt, Camilla

AU - Yang, Xiaohong R

AU - Michailidou, Kyriaki

AU - Dunning, Alison M

AU - Pharoah, Paul D P

AU - Easton, Douglas F

AU - Andrulis, Irene L

AU - Evans, D Gareth

AU - Hollestelle, Antoinette

AU - Chang-Claude, Jenny

AU - Milne, Roger L

AU - Peterlongo, Paolo

AU - NBCS Collaborators

AU - KConFab Investigators

PY - 2023/6/23

Y1 - 2023/6/23

N2 - FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous than those from Northeastern Europe. These findings will inform the development of more efficient FANCM genetic testing strategies for breast cancer cases from specific European populations.

AB - FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous than those from Northeastern Europe. These findings will inform the development of more efficient FANCM genetic testing strategies for breast cancer cases from specific European populations.

U2 - 10.3390/cancers15133313

DO - 10.3390/cancers15133313

M3 - SCORING: Journal article

C2 - 37444426

VL - 15

JO - CANCERS

JF - CANCERS

SN - 2072-6694

IS - 13

M1 - 3313

ER -