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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/923 individuals with familial breast cancer compared with 0/1,084 controls (P = 0.0004) and show that such mutations confer a 2.3-fold higher risk of breast cancer (95% confidence interval (c.i.) = 1.4-3.9, P = 0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia-DNA repair pathway and breast cancer predisposition.
1061-4036
165-167
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Seal, Sheila
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Thompson, Deborah
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Kelly, Patrick
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Renwick, Anthony
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Elliott, Anna
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Reid, Sarah
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Spanova, Katarina
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Barfoot, Rita
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Chagtai, Tasnim
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Jayatilake, Hiran
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McGuffog, Lesley
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Hanks, Sandra
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Evans, D. Gareth
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Eccles, Diana
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Easton, Douglas F.
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Stratton, Michael R.
1a44af4a-9ddf-4e7f-b2bb-76ceecf8dca7
The Breast Cancer Susceptibility Collaboration (UK)
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Seal, Sheila
d8090fdd-aa7a-40c4-a4e4-18a094e7671f
Thompson, Deborah
65e016e8-1f8c-4c65-aa77-eec5cd94f3cf
Kelly, Patrick
a82ce0d4-87d6-4cb3-970d-fa9b5815f97a
Renwick, Anthony
3d9b9053-ec16-41a7-963d-b72f63c44cc9
Elliott, Anna
2a54d29e-a893-42fb-a182-14b83a591307
Reid, Sarah
24381819-6167-4a67-a9ef-186a68a56259
Spanova, Katarina
d5075b53-df34-461e-aa35-d5eadbefe7c7
Barfoot, Rita
a92142fd-34d6-4c3f-b722-c4d6674faf0b
Chagtai, Tasnim
bd822fe3-6403-4727-baef-8214b7f1d4c0
Jayatilake, Hiran
fce4b891-57b1-48e7-a276-b77ac5b490bf
McGuffog, Lesley
21522096-38bb-45df-aa56-caf2f27d7254
Hanks, Sandra
69252af9-4d09-4c6c-987e-5965a21a58c7
Evans, D. Gareth
314acefb-89fb-4eb7-a0e7-0a6949c9af6c
Eccles, Diana
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Easton, Douglas F.
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Stratton, Michael R.
1a44af4a-9ddf-4e7f-b2bb-76ceecf8dca7

Rahman, Nazneen, Seal, Sheila, Thompson, Deborah, Kelly, Patrick, Renwick, Anthony, Elliott, Anna, Reid, Sarah, Spanova, Katarina, Barfoot, Rita, Chagtai, Tasnim, Jayatilake, Hiran, McGuffog, Lesley, Hanks, Sandra, Evans, D. Gareth, Eccles, Diana, Easton, Douglas F. and Stratton, Michael R. , The Breast Cancer Susceptibility Collaboration (UK) (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nature Genetics, 39 (2), 165-167. (doi:10.1038/ng1959).

Record type: Article

Abstract

PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/923 individuals with familial breast cancer compared with 0/1,084 controls (P = 0.0004) and show that such mutations confer a 2.3-fold higher risk of breast cancer (95% confidence interval (c.i.) = 1.4-3.9, P = 0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia-DNA repair pathway and breast cancer predisposition.

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More information

Published date: 2007
Additional Information: Brief communication
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 44355
URI: http://eprints.soton.ac.uk/id/eprint/44355
ISSN: 1061-4036
PURE UUID: 60ce33e8-5057-45e7-afcb-924fa4d337c0
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 28 Feb 2007
Last modified: 16 Mar 2024 02:39

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Contributors

Author: Nazneen Rahman
Author: Sheila Seal
Author: Deborah Thompson
Author: Patrick Kelly
Author: Anthony Renwick
Author: Anna Elliott
Author: Sarah Reid
Author: Katarina Spanova
Author: Rita Barfoot
Author: Tasnim Chagtai
Author: Hiran Jayatilake
Author: Lesley McGuffog
Author: Sandra Hanks
Author: D. Gareth Evans
Author: Diana Eccles ORCID iD
Author: Douglas F. Easton
Author: Michael R. Stratton
Corporate Author: The Breast Cancer Susceptibility Collaboration (UK)

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