onr:"swepub:oai:prod.swepub.kib.ki.se:143348848"
Search: onr:"swepub:oai:prod.swepub.kib.ki.se:143348848" > The Spectrum of FAN...
- 1 of 1
- Previous record
- Next record
- To hitlist
- Figlioli, GIFOM - The FIRC Institute of Molecular Oncology (author)
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- Article/chapterEnglish2020
Publisher, publication year, extent ...
- 2020-01-26
- MDPI AG,2020
Numbers
- LIBRIS-ID:oai:prod.swepub.kib.ki.se:143348848
- http://kipublications.ki.se/Default.aspx?queryparsed=id:143348848URI
- https://doi.org/10.3390/cancers12020292DOI
- https://lup.lub.lu.se/record/d89d7af7-e65a-468c-b265-221d6410f74aURI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- 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*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
- Breast cancer predisposition
- Breast cancer risk factors
- FANCM truncating variants
- Mutation spectrum
- PTVs
Added entries (persons, corporate bodies, meetings, titles ...)
- Kvist, A (author)
- Tham, EKarolinska Institutet (author)
- Soukupova, J (author)
- Kleiblova, P (author)
- Muranen, TA (author)
- Andrieu, N (author)
- Azzollini, J (author)
- Balmana, J (author)
- Barroso, A (author)
- Benitez, J (author)
- Bertelsen, B (author)
- Blanco, A (author)
- Bonanni, B (author)
- Borg, A (author)
- Brunet, J (author)
- Calistri, D (author)
- Calvello, M (author)
- Chvojka, S (author)
- Cortesi, L (author)
- Darder, E (author)
- Del Valle, J (author)
- Diez, O (author)
- Eon-Marchais, S (author)
- Fostira, F (author)
- Gensini, F (author)
- Houdayer, C (author)
- Janatova, M (author)
- Kiiski, J (author)
- Konstantopoulou, I (author)
- Kubelka-Sabit, K (author)
- Lazaro, C (author)
- Lesueur, F (author)
- Manoukian, S (author)
- Marcinkute, R (author)
- Mickys, U (author)
- Moncoutier, V (author)
- Myszka, A (author)
- Tu, ND (author)
- Nielsen, FC (author)
- Norvilas, R (author)
- Olah, E (author)
- Osorio, A (author)
- Papi, L (author)
- Peissel, B (author)
- Peixoto, A (author)
- Plaseska-Karanfilska, D (author)
- Pocza, T (author)
- Rossing, M (author)
- Rudaitis, V (author)
- Santamarina, M (author)
- Santos, C (author)
- Smichkoska, S (author)
- Southey, MC (author)
- Stoppa-Lyonnet, D (author)
- Teixeira, M (author)
- Torngren, T (author)
- Toss, A (author)
- Urioste, M (author)
- Vega, A (author)
- Vlckova, Z (author)
- Yannoukakos, D (author)
- Zampiga, V (author)
- Kleibl, Z (author)
- Radice, P (author)
- Nevanlinna, H (author)
- Ehrencrona, HansLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Region Skåne(Swepub:lu)med-hen (author)
- Janavicius, R (author)
- Peterlongo, PIFOM - The FIRC Institute of Molecular Oncology (author)
- Karolinska InstitutetIFOM - The FIRC Institute of Molecular Oncology (creator_code:org_t)
Related titles
- In:Cancers: MDPI AG12:22072-6694
Internet link
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Figlioli, G
- Kvist, A
- Tham, E
- Soukupova, J
- Kleiblova, P
- Muranen, TA
- show more...
- 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, ...
- Kubelka-Sabit, K
- Lazaro, C
- Lesueur, F
- Manoukian, S
- Marcinkute, R
- Mickys, U
- Moncoutier, V
- Myszka, A
- Tu, ND
- Nielsen, FC
- Norvilas, R
- Olah, E
- Osorio, A
- Papi, L
- Peissel, B
- Peixoto, A
- Plaseska-Karanfi ...
- Pocza, T
- Rossing, M
- Rudaitis, V
- Santamarina, M
- Santos, C
- Smichkoska, S
- Southey, MC
- Stoppa-Lyonnet, ...
- Teixeira, M
- Torngren, T
- Toss, A
- Urioste, M
- Vega, A
- Vlckova, Z
- Yannoukakos, D
- Zampiga, V
- Kleibl, Z
- Radice, P
- Nevanlinna, H
- Ehrencrona, Hans
- Janavicius, R
- Peterlongo, P
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Cancer and Oncol ...
- Articles in the publication
- Cancers
- By the university
- Karolinska Institutet
- Lund University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
