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Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers
bach1, mutation, fanconi-anemia, gene, brca2, brca2 mutations, breast, individuals, predisposition, breast-cancer, breast cancer, mutations, helicase brip1, protein, susceptibility, cancer, risk
1061-4036
1239-1241
Seal, Sheila
d8090fdd-aa7a-40c4-a4e4-18a094e7671f
Thompson, Deborah
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Renwick, Anthony
3d9b9053-ec16-41a7-963d-b72f63c44cc9
Elliott, Anna
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Kelly, Patrick
a82ce0d4-87d6-4cb3-970d-fa9b5815f97a
Barfoot, Rita
a92142fd-34d6-4c3f-b722-c4d6674faf0b
Chagtai, Tasnim
bd822fe3-6403-4727-baef-8214b7f1d4c0
Jayatilake, Hiran
fce4b891-57b1-48e7-a276-b77ac5b490bf
Ahmed, Munaza
ad917171-e73a-44fc-8440-5b9cafd801b2
Spanova, Katarina
d5075b53-df34-461e-aa35-d5eadbefe7c7
North, Bernard
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McGuffog, Lesley
21522096-38bb-45df-aa56-caf2f27d7254
Evans, D. Gareth
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Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Easton, Douglas F.
2661cf5e-8fc6-4f1d-b27a-e60cac8c8819
Stratton, Michael R.
1a44af4a-9ddf-4e7f-b2bb-76ceecf8dca7
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Seal, Sheila
d8090fdd-aa7a-40c4-a4e4-18a094e7671f
Thompson, Deborah
65e016e8-1f8c-4c65-aa77-eec5cd94f3cf
Renwick, Anthony
3d9b9053-ec16-41a7-963d-b72f63c44cc9
Elliott, Anna
2a54d29e-a893-42fb-a182-14b83a591307
Kelly, Patrick
a82ce0d4-87d6-4cb3-970d-fa9b5815f97a
Barfoot, Rita
a92142fd-34d6-4c3f-b722-c4d6674faf0b
Chagtai, Tasnim
bd822fe3-6403-4727-baef-8214b7f1d4c0
Jayatilake, Hiran
fce4b891-57b1-48e7-a276-b77ac5b490bf
Ahmed, Munaza
ad917171-e73a-44fc-8440-5b9cafd801b2
Spanova, Katarina
d5075b53-df34-461e-aa35-d5eadbefe7c7
North, Bernard
55b4b800-9a2f-4af1-899f-a31a72f9bfe7
McGuffog, Lesley
21522096-38bb-45df-aa56-caf2f27d7254
Evans, D. Gareth
314acefb-89fb-4eb7-a0e7-0a6949c9af6c
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Easton, Douglas F.
2661cf5e-8fc6-4f1d-b27a-e60cac8c8819
Stratton, Michael R.
1a44af4a-9ddf-4e7f-b2bb-76ceecf8dca7
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51

Seal, Sheila, Thompson, Deborah, Renwick, Anthony, Elliott, Anna, Kelly, Patrick, Barfoot, Rita, Chagtai, Tasnim, Jayatilake, Hiran, Ahmed, Munaza, Spanova, Katarina, North, Bernard, McGuffog, Lesley, Evans, D. Gareth, Eccles, Diana, Easton, Douglas F., Stratton, Michael R. and Rahman, Nazneen (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nature Genetics, 38 (11), 1239-1241. (doi:10.1038/ng1902).

Record type: Article

Abstract

We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers

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More information

Published date: November 2006
Keywords: bach1, mutation, fanconi-anemia, gene, brca2, brca2 mutations, breast, individuals, predisposition, breast-cancer, breast cancer, mutations, helicase brip1, protein, susceptibility, cancer, risk

Identifiers

Local EPrints ID: 62921
URI: http://eprints.soton.ac.uk/id/eprint/62921
ISSN: 1061-4036
PURE UUID: 77863d9b-13d1-474d-8da2-a1debe0f0cee

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Date deposited: 11 Sep 2008
Last modified: 13 Mar 2019 20:26

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Contributors

Author: Sheila Seal
Author: Deborah Thompson
Author: Anthony Renwick
Author: Anna Elliott
Author: Patrick Kelly
Author: Rita Barfoot
Author: Tasnim Chagtai
Author: Hiran Jayatilake
Author: Munaza Ahmed
Author: Katarina Spanova
Author: Bernard North
Author: Lesley McGuffog
Author: D. Gareth Evans
Author: Diana Eccles
Author: Douglas F. Easton
Author: Michael R. Stratton
Author: Nazneen Rahman

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