The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- Figlioli, G
- Kvist, A
- Tham, E
- Soukupova, J
- Kleiblova, P
- Muranen, TA
- Andrieu, N
- Azzollini, J
- Balmana, J
- Barroso, A
- Benitez, J
- Bertelsen, B
- Blanco, A
- Bonanni, B
- Borg, A
- Brunet, J
- Calistri, D
- Calvello, M
- Chvojka, S
- Cortesi, L
- Darder, E
- Del Valle, J
- Diez, O
- Eon-Marchais, S
- Fostira, F
- Gensini, F
- Houdayer, C
- Janatova, M
- Kiiski, J
- Konstantopoulou, I
- Kubelka-Sabit, K
- Lazaro, C
- Lesueur, F
- Manoukian, S
- Marcinkute, R
- Mickys, U
- Moncoutier, V
- Myszka, A
- Tu, N-D
- Nielsen, FC
- Norvilas, R
- Olah, E
- Osorio, A
- Papi, L
- Peissel, B
- Peixoto, A
- Plaseska-Karanfilska, D
- Pocza, T
- Rossing, M
- Rudaitis, V
- Santamarina, M
- Santos, C
- Smichkoska, S
- Southey, MC
- Stoppa-Lyonnet, D
- Teixeira, M
- Torngren, T
- Toss, A
- Urioste, M
- Vega, A
- Vlckova, Z
- Yannoukakos, D
- Zampiga, V
- Kleibl, Z
- Radice, P
- Nevanlinna, H
- Ehrencrona, H
- Janavicius, R
- Peterlongo, P
DOIAbstract
Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2-4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, ...
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