Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Stephanie Smetsers; Joanne Muter; Claire Bristow; Leena Patel; Kate Chandler; Denise Bonney; Robert F. Wynn; Anthony D. Whetton; Andrew M. Will; Davy Rockx; Hans Joenje; Gordon Strathdee; Jonathan Shanks; Eva Klopocki; Johan J P Gille; Josephine Dorsman; Stefan Meyer

doi:10.1007/s10689-012-9553-3

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Stephanie Smetsers, Joanne Muter, Claire Bristow, Leena Patel, Kate Chandler, Denise Bonney, Robert F. Wynn, Anthony D. Whetton, Andrew M. Will, Davy Rockx, Hans Joenje, Gordon Strathdee, Jonathan Shanks, Eva Klopocki, Johan J P Gille, Josephine Dorsman, Stefan Meyer

Research output: Contribution to journal › Article › peer-review

Abstract

Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/ FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T>C (p.Leu153Ser) and c.2715 + 1G>A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue. © Springer Science+Business Media B.V. 2012.

Original language	English
Pages (from-to)	661-665
Number of pages	4
Journal	Familial Cancer
Volume	11
Issue number	4
DOIs	https://doi.org/10.1007/s10689-012-9553-3
Publication status	Published - Dec 2012

Keywords

FANCD2
Fanconi anaemia
Leukaemia
Seminoma
Systemic Lupus erythematodous
T Cell ALL

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s10689-012-9553-3

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Smetsers, S., Muter, J., Bristow, C., Patel, L., Chandler, K., Bonney, D., Wynn, R. F., Whetton, A. D., Will, A. M., Rockx, D., Joenje, H., Strathdee, G., Shanks, J., Klopocki, E., Gille, J. J. P., Dorsman, J., & Meyer, S. (2012). Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. Familial Cancer, 11(4), 661-665. https://doi.org/10.1007/s10689-012-9553-3

@article{be7fc1cc9eb0482c8808a0ce7c3e08d4,

title = "Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma",

abstract = "Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/ FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T>C (p.Leu153Ser) and c.2715 + 1G>A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue. {\textcopyright} Springer Science+Business Media B.V. 2012.",

keywords = "FANCD2, Fanconi anaemia, Leukaemia, Seminoma, Systemic Lupus erythematodous, T Cell ALL",

author = "Stephanie Smetsers and Joanne Muter and Claire Bristow and Leena Patel and Kate Chandler and Denise Bonney and Wynn, {Robert F.} and Whetton, {Anthony D.} and Will, {Andrew M.} and Davy Rockx and Hans Joenje and Gordon Strathdee and Jonathan Shanks and Eva Klopocki and Gille, {Johan J P} and Josephine Dorsman and Stefan Meyer",

year = "2012",

month = dec,

doi = "10.1007/s10689-012-9553-3",

language = "English",

volume = "11",

pages = "661--665",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer Nature",

number = "4",

}

Smetsers, S, Muter, J, Bristow, C, Patel, L, Chandler, K, Bonney, D, Wynn, RF, Whetton, AD, Will, AM, Rockx, D, Joenje, H, Strathdee, G, Shanks, J, Klopocki, E, Gille, JJP, Dorsman, J & Meyer, S 2012, 'Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma', Familial Cancer, vol. 11, no. 4, pp. 661-665. https://doi.org/10.1007/s10689-012-9553-3

TY - JOUR

T1 - Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

AU - Smetsers, Stephanie

AU - Muter, Joanne

AU - Bristow, Claire

AU - Patel, Leena

AU - Chandler, Kate

AU - Bonney, Denise

AU - Wynn, Robert F.

AU - Whetton, Anthony D.

AU - Will, Andrew M.

AU - Rockx, Davy

AU - Joenje, Hans

AU - Strathdee, Gordon

AU - Shanks, Jonathan

AU - Klopocki, Eva

AU - Gille, Johan J P

AU - Dorsman, Josephine

AU - Meyer, Stefan

PY - 2012/12

Y1 - 2012/12

N2 - Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/ FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T>C (p.Leu153Ser) and c.2715 + 1G>A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue. © Springer Science+Business Media B.V. 2012.

AB - Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/ FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T>C (p.Leu153Ser) and c.2715 + 1G>A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue. © Springer Science+Business Media B.V. 2012.

KW - FANCD2

KW - Fanconi anaemia

KW - Leukaemia

KW - Seminoma

KW - Systemic Lupus erythematodous

KW - T Cell ALL

U2 - 10.1007/s10689-012-9553-3

DO - 10.1007/s10689-012-9553-3

M3 - Article

C2 - 22829014

SN - 1389-9600

VL - 11

SP - 661

EP - 665

JO - Familial Cancer

JF - Familial Cancer

IS - 4

ER -

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Abstract

Keywords

UN SDGs

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