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Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Figlioli, G. ; Kvist, A. LU and Peterlongo, P. (2023) In Cancers 15(13).
Abstract
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... (More)
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. © 2023 by the authors. (Less)
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Contribution to journal
publication status
published
subject
keywords
breast cancer predisposition, breast cancer risk factors, FANCM PTVs spectrum, protein truncating variants, PTVs, Article, Australia, breast cancer, Canada, cancer risk, cancer susceptibility, cohort analysis, Eastern Europe, European, FANCM gene, female, gene, gene frequency, genetic variability, heterozygote, human, Lithuania, major clinical study, prevalence, risk factor, United States
in
Cancers
volume
15
issue
13
article number
3313
publisher
MDPI AG
external identifiers
  • scopus:85165009430
ISSN
2072-6694
DOI
10.3390/cancers15133313
language
English
LU publication?
yes
id
e6ae4001-9360-46fc-96ad-56092b67a108
date added to LUP
2023-11-20 11:27:09
date last changed
2023-11-20 11:29:18
@article{e6ae4001-9360-46fc-96ad-56092b67a108,
  abstract     = {{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. © 2023 by the authors.}},
  author       = {{Figlioli, G. and Kvist, A. and Peterlongo, P.}},
  issn         = {{2072-6694}},
  keywords     = {{breast cancer predisposition; breast cancer risk factors; FANCM PTVs spectrum; protein truncating variants; PTVs; Article; Australia; breast cancer; Canada; cancer risk; cancer susceptibility; cohort analysis; Eastern Europe; European; FANCM gene; female; gene; gene frequency; genetic variability; heterozygote; human; Lithuania; major clinical study; prevalence; risk factor; United States}},
  language     = {{eng}},
  number       = {{13}},
  publisher    = {{MDPI AG}},
  series       = {{Cancers}},
  title        = {{Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases}},
  url          = {{http://dx.doi.org/10.3390/cancers15133313}},
  doi          = {{10.3390/cancers15133313}},
  volume       = {{15}},
  year         = {{2023}},
}