Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

S Reid; D Schindler; H Hanenberg; K Barker; S Hanks; R Kalb; K Neveling; P Kelly; S Seal; M Freund; M Wurm; S D Batish; F P Lach; S Yetgin; H Neitzel; H Ariffin; M Tischkowitz; C G Mathew; D Auerbach; N Rahman

doi:10.1038/ng1947

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

S Reid, D Schindler, H Hanenberg, K Barker, S Hanks, R Kalb, K Neveling, P Kelly, S Seal, M Freund, M Wurm, S D Batish, F P Lach, S Yetgin, H Neitzel, H Ariffin, M Tischkowitz, C G Mathew, D Auerbach, N Rahman

Medical & Molecular Genetics

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

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Abstract

PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer

Original language	English
Pages (from-to)	162 - 164
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	2
DOIs	https://doi.org/10.1038/ng1947
Publication status	Published - Feb 2007

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Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., Wurm, M., Batish, S. D., Lach, F. P., Yetgin, S., Neitzel, H., Ariffin, H., Tischkowitz, M., Mathew, C. G., Auerbach, D., & Rahman, N. (2007). Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nature Genetics, 39(2), 162 - 164. https://doi.org/10.1038/ng1947

@article{ef528cb0d16f422c8bbc26ce6aff9121,

title = "Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer",

abstract = "PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer",

author = "S Reid and D Schindler and H Hanenberg and K Barker and S Hanks and R Kalb and K Neveling and P Kelly and S Seal and M Freund and M Wurm and Batish, {S D} and Lach, {F P} and S Yetgin and H Neitzel and H Ariffin and M Tischkowitz and Mathew, {C G} and D Auerbach and N Rahman",

year = "2007",

month = feb,

doi = "10.1038/ng1947",

language = "English",

volume = "39",

pages = "162 -- 164",

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Reid, S, Schindler, D, Hanenberg, H, Barker, K, Hanks, S, Kalb, R, Neveling, K, Kelly, P, Seal, S, Freund, M, Wurm, M, Batish, SD, Lach, FP, Yetgin, S, Neitzel, H, Ariffin, H, Tischkowitz, M, Mathew, CG, Auerbach, D & Rahman, N 2007, 'Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer', Nature Genetics, vol. 39, no. 2, pp. 162 - 164. https://doi.org/10.1038/ng1947

TY - JOUR

T1 - Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

AU - Reid, S

AU - Schindler, D

AU - Hanenberg, H

AU - Barker, K

AU - Hanks, S

AU - Kalb, R

AU - Neveling, K

AU - Kelly, P

AU - Seal, S

AU - Freund, M

AU - Wurm, M

AU - Batish, S D

AU - Lach, F P

AU - Yetgin, S

AU - Neitzel, H

AU - Ariffin, H

AU - Tischkowitz, M

AU - Mathew, C G

AU - Auerbach, D

AU - Rahman, N

PY - 2007/2

Y1 - 2007/2

N2 - PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer

AB - PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer

U2 - 10.1038/ng1947

DO - 10.1038/ng1947

M3 - Article

SN - 1546-1718

VL - 39

SP - 162

EP - 164

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Abstract

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