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Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations : evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. / Ni, Valeriya I.; Ivantsov, Alexandr O.; Kotkova, Mariya A.; Baskina, Sofia V.; Ponomareva, Elena V.; Orlova, Rashida V.; Topuzov, Eldar E.; Kryukov, Kirill K.; Shelekhova, Kseniya V.; Aleksakhina, Svetlana N.; Sokolenko, Anna P.; Imyanitov, Evgeny N.

в: Familial Cancer, Том 20, № 1, 01.2021, стр. 49-53.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

Harvard

Ni, VI, Ivantsov, AO, Kotkova, MA, Baskina, SV, Ponomareva, EV, Orlova, RV, Topuzov, EE, Kryukov, KK, Shelekhova, KV, Aleksakhina, SN, Sokolenko, AP & Imyanitov, EN 2021, 'Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue', Familial Cancer, Том. 20, № 1, стр. 49-53. https://doi.org/10.1007/s10689-020-00190-5

APA

Ni, V. I., Ivantsov, A. O., Kotkova, M. A., Baskina, S. V., Ponomareva, E. V., Orlova, R. V., Topuzov, E. E., Kryukov, K. K., Shelekhova, K. V., Aleksakhina, S. N., Sokolenko, A. P., & Imyanitov, E. N. (2021). Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. Familial Cancer, 20(1), 49-53. https://doi.org/10.1007/s10689-020-00190-5

Vancouver

Ni VI, Ivantsov AO, Kotkova MA, Baskina SV, Ponomareva EV, Orlova RV и пр. Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. Familial Cancer. 2021 Янв.;20(1):49-53. https://doi.org/10.1007/s10689-020-00190-5

Author

Ni, Valeriya I. ; Ivantsov, Alexandr O. ; Kotkova, Mariya A. ; Baskina, Sofia V. ; Ponomareva, Elena V. ; Orlova, Rashida V. ; Topuzov, Eldar E. ; Kryukov, Kirill K. ; Shelekhova, Kseniya V. ; Aleksakhina, Svetlana N. ; Sokolenko, Anna P. ; Imyanitov, Evgeny N. / Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations : evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue. в: Familial Cancer. 2021 ; Том 20, № 1. стр. 49-53.

BibTeX

@article{a8bbe165e262431c986ba26ff8ac9ac8,
title = "Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue",
abstract = "A recent study suggested a role of CHEK2 loss-of-function germ-line pathogenic variants in the predisposition to testicular cancer (TC) (AlDubayan et al. JAMA Oncol 5:514–522, 2019). We attempted to validate this finding relying on the high population frequency of recurrent CHEK2 pathogenic variants in Slavic populations. CHEK2 pathogenic alleles (c.1100delC (p.Thr367Metfs); del5395 [del ex9-10]; IVS2 + 1G > A [c.444 + 1G > A]) were detected in 7/280 (2.5%) TC patients vs. 3/424 (0.7%) healthy men and 6/1007 (0.6%) healthy women [OR 4.0 (95% CI 1.5–11), p = 0.009 for pooled control groups]. Somatic CHEK2 loss-of-heterozygosity (LOH) was detected in 4 out of 6 tumors available for analysis; strikingly all these instances of LOH involved inactivation of the wild-type allele. The CHEK2 c.470T > C (p.Ile157Thr) variant was detected in 21/280 (7.5%) affected vs. 22/424 (5.2%) non-affected men [OR 1.5 (95% CI 0.8–2.7), p = 0.3]. Somatic CHEK2 LOH was revealed only in 6 out of 21 tumors obtained from CHEK2 c.470T > C (p.Ile157Thr) carriers, with the C-allele lost in two cases and T-allele deleted in four tumors. The results of comparison of allele frequencies in TC patients versus population controls coupled with the data on CHEK2 LOH status in tumor tissues support the association of CHEK2 pathogenic variants with TC risk.",
keywords = "CHEK2 mutation, Loss of heterozygosity, Testicular cancer",
author = "Ni, {Valeriya I.} and Ivantsov, {Alexandr O.} and Kotkova, {Mariya A.} and Baskina, {Sofia V.} and Ponomareva, {Elena V.} and Orlova, {Rashida V.} and Topuzov, {Eldar E.} and Kryukov, {Kirill K.} and Shelekhova, {Kseniya V.} and Aleksakhina, {Svetlana N.} and Sokolenko, {Anna P.} and Imyanitov, {Evgeny N.}",
note = "Publisher Copyright: {\textcopyright} 2020, Springer Nature B.V.",
year = "2021",
month = jan,
doi = "10.1007/s10689-020-00190-5",
language = "English",
volume = "20",
pages = "49--53",
journal = "Familial Cancer",
issn = "1389-9600",
publisher = "Springer Nature",
number = "1",

}

RIS

TY - JOUR

T1 - Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations

T2 - evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue

AU - Ni, Valeriya I.

AU - Ivantsov, Alexandr O.

AU - Kotkova, Mariya A.

AU - Baskina, Sofia V.

AU - Ponomareva, Elena V.

AU - Orlova, Rashida V.

AU - Topuzov, Eldar E.

AU - Kryukov, Kirill K.

AU - Shelekhova, Kseniya V.

AU - Aleksakhina, Svetlana N.

AU - Sokolenko, Anna P.

AU - Imyanitov, Evgeny N.

N1 - Publisher Copyright: © 2020, Springer Nature B.V.

PY - 2021/1

Y1 - 2021/1

N2 - A recent study suggested a role of CHEK2 loss-of-function germ-line pathogenic variants in the predisposition to testicular cancer (TC) (AlDubayan et al. JAMA Oncol 5:514–522, 2019). We attempted to validate this finding relying on the high population frequency of recurrent CHEK2 pathogenic variants in Slavic populations. CHEK2 pathogenic alleles (c.1100delC (p.Thr367Metfs); del5395 [del ex9-10]; IVS2 + 1G > A [c.444 + 1G > A]) were detected in 7/280 (2.5%) TC patients vs. 3/424 (0.7%) healthy men and 6/1007 (0.6%) healthy women [OR 4.0 (95% CI 1.5–11), p = 0.009 for pooled control groups]. Somatic CHEK2 loss-of-heterozygosity (LOH) was detected in 4 out of 6 tumors available for analysis; strikingly all these instances of LOH involved inactivation of the wild-type allele. The CHEK2 c.470T > C (p.Ile157Thr) variant was detected in 21/280 (7.5%) affected vs. 22/424 (5.2%) non-affected men [OR 1.5 (95% CI 0.8–2.7), p = 0.3]. Somatic CHEK2 LOH was revealed only in 6 out of 21 tumors obtained from CHEK2 c.470T > C (p.Ile157Thr) carriers, with the C-allele lost in two cases and T-allele deleted in four tumors. The results of comparison of allele frequencies in TC patients versus population controls coupled with the data on CHEK2 LOH status in tumor tissues support the association of CHEK2 pathogenic variants with TC risk.

AB - A recent study suggested a role of CHEK2 loss-of-function germ-line pathogenic variants in the predisposition to testicular cancer (TC) (AlDubayan et al. JAMA Oncol 5:514–522, 2019). We attempted to validate this finding relying on the high population frequency of recurrent CHEK2 pathogenic variants in Slavic populations. CHEK2 pathogenic alleles (c.1100delC (p.Thr367Metfs); del5395 [del ex9-10]; IVS2 + 1G > A [c.444 + 1G > A]) were detected in 7/280 (2.5%) TC patients vs. 3/424 (0.7%) healthy men and 6/1007 (0.6%) healthy women [OR 4.0 (95% CI 1.5–11), p = 0.009 for pooled control groups]. Somatic CHEK2 loss-of-heterozygosity (LOH) was detected in 4 out of 6 tumors available for analysis; strikingly all these instances of LOH involved inactivation of the wild-type allele. The CHEK2 c.470T > C (p.Ile157Thr) variant was detected in 21/280 (7.5%) affected vs. 22/424 (5.2%) non-affected men [OR 1.5 (95% CI 0.8–2.7), p = 0.3]. Somatic CHEK2 LOH was revealed only in 6 out of 21 tumors obtained from CHEK2 c.470T > C (p.Ile157Thr) carriers, with the C-allele lost in two cases and T-allele deleted in four tumors. The results of comparison of allele frequencies in TC patients versus population controls coupled with the data on CHEK2 LOH status in tumor tissues support the association of CHEK2 pathogenic variants with TC risk.

KW - CHEK2 mutation

KW - Loss of heterozygosity

KW - Testicular cancer

UR - http://www.scopus.com/inward/record.url?scp=85085355854&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/e5fdfaf2-42c1-3bab-b5a9-1b141fdbfb01/

U2 - 10.1007/s10689-020-00190-5

DO - 10.1007/s10689-020-00190-5

M3 - Article

C2 - 32451744

AN - SCOPUS:85085355854

VL - 20

SP - 49

EP - 53

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 1

ER -

ID: 75174833