@article{fdi:010061511,
  title = {{NLRP}7 and the genetics of post-molar choriocarcinomas in {S}enegal},
  author = {{S}lim, {R}. and {C}oullin, {P}. and {D}iatta, {A}. {L}. and {C}hebaro, {W}. and {C}ourtin, {D}avid and {A}bdelhak, {S}. and {G}arcia, {A}ndr{\'e}},
  editor = {},
  language = {{ENG}},
  abstract = {{G}estational choriocarcinomas are malignant tumors of trophoblastic cells that affect 5-25% of women with sporadic hydatidiform moles ({HM}s) depending on countries and studies. {N}ucleotide binding and oligomerization domain-like receptor protein 7 ({NLRP}7) is a major gene responsible for recurrent {HM}s and recently mutations in this gene have also been shown in 13% of women with sporadic, non-recurrent moles. {T}o investigate the role of {NLRP}7 in the genetic susceptibility for the malignant degeneration of moles, we sequenced its 11 exons in 43 {S}enegalese patients with post-molar choriocarcinomas. {W}e report the presence of three novel {NLRP}7 variants that were found only in patients but not in 100 controls from the {S}enegalese general population, 100 controls from the {T}unisian general population, and 100 controls from the {C}anadian population. {I}n addition, this analysis revealed significant differences in the frequencies of four non-synonymous {NLRP}7 variants between {E}uropean and {S}enegalese controls with the biggest difference being for variant {G}487{E} present at a minor allele frequency of 3.5% in {E}uropeans, 18.1% in {T}unisians and 45.6% in {S}enegalese. {C}omparing human {NLRP}7 and its paralog, {NLRP}2, with their mammalian counterparts revealed that allele {E} at position 487 is most likely the ancestral allele that was acquired in {A}frica but driven to low frequencies in {E}uropeans and {A}sians due to migration, population bottlenecks and selective pressures. {T}his study is the first attempt to investigate the role of {NLRP}7 in choriocarcinomas and highlights the higher frequencies of {NLRP}7 variants in the general {S}enegalese and {T}unisian populations both known to have higher frequencies of moles and choriocarcinomas.},
  keywords = {{NLRP}7 ; choriocarcinomas ; mutation analysis ; post-molar choriocarcinomas ; {S}enegal},
  booktitle = {},
  journal = {{M}olecular {H}uman {R}eproduction},
  volume = {18},
  numero = {1},
  pages = {52--56},
  ISSN = {1360-9947},
  year = {2012},
  DOI = {10.1093/molehr/gar060},
  URL = {https://www.documentation.ird.fr/hor/fdi:010061511},
}