TY  - JOUR
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  - Nbcs Collaborators
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  - kConFab Investigators
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
TI  - Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
JO  - Cancers
VL  - 15
IS  - 13
SN  - 2072-6694
CY  - Basel
PB  - MDPI
M1  - DKFZ-2023-01456
SP  - 3313
PY  - 2023
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.
KW  - FANCM PTVs spectrum (Other)
KW  - PTVs (Other)
KW  - breast cancer predisposition (Other)
KW  - breast cancer risk factors (Other)
KW  - protein truncating variants (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:37444426
C2  - pmc:PMC10340689
DO  - DOI:10.3390/cancers15133313
UR  - https://inrepo02.dkfz.de/record/277739
ER  -