The spectrum of fancm protein truncating variants in European breast cancer cases
(2020) In Cancers 12(2).- Abstract
- 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*,... (More)
- 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. (Less)
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- author
- Figlioli, Gisella ; Ehrencrona, Hans LU and Peterlongo, Paolo
- author collaboration
- organization
- publishing date
- 2020-02
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Breast cancer predisposition, Breast cancer risk factors, FANCM truncating variants, Mutation spectrum, PTVs
- in
- Cancers
- volume
- 12
- issue
- 2
- article number
- 292
- publisher
- MDPI AG
- external identifiers
-
- scopus:85078848552
- pmid:31991861
- ISSN
- 2072-6694
- DOI
- 10.3390/cancers12020292
- language
- English
- LU publication?
- yes
- id
- d89d7af7-e65a-468c-b265-221d6410f74a
- date added to LUP
- 2020-02-11 15:24:31
- date last changed
- 2022-04-18 20:31:34
@article{d89d7af7-e65a-468c-b265-221d6410f74a, abstract = {{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.}}, author = {{Figlioli, Gisella and Ehrencrona, Hans and Peterlongo, Paolo}}, issn = {{2072-6694}}, keywords = {{Breast cancer predisposition; Breast cancer risk factors; FANCM truncating variants; Mutation spectrum; PTVs}}, language = {{eng}}, number = {{2}}, publisher = {{MDPI AG}}, series = {{Cancers}}, title = {{The spectrum of fancm protein truncating variants in European breast cancer cases}}, url = {{http://dx.doi.org/10.3390/cancers12020292}}, doi = {{10.3390/cancers12020292}}, volume = {{12}}, year = {{2020}}, }