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The spectrum of fancm protein truncating variants in European breast cancer cases

Figlioli, Gisella ; Ehrencrona, Hans LU and Peterlongo, Paolo (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 collaboration
organization
publishing date
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
Multidisciplinary Digital Publishing Institute (MDPI)
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
2020-10-07 06:53:30
@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},
  language     = {eng},
  number       = {2},
  publisher    = {Multidisciplinary Digital Publishing Institute (MDPI)},
  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},
}