Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
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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, Jahrgang 15, Nr. 13, 3313, 23.06.2023.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -