PMID- 17200668
OWN - NLM
STAT- MEDLINE
DCOM- 20070423
LR  - 20220331
IS  - 1061-4036 (Print)
IS  - 1546-1718 (Electronic)
IS  - 1061-4036 (Linking)
VI  - 39
IP  - 2
DP  - 2007 Feb
TI  - PALB2, which encodes a BRCA2-interacting protein, is a breast cancer 
      susceptibility gene.
PG  - 165-7
AB  - 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.
FAU - Rahman, Nazneen
AU  - Rahman N
AD  - Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, 
      Sutton, Surrey SM2 5NG, UK. nazneen.rahman@icr.ac.uk
FAU - Seal, Sheila
AU  - Seal S
FAU - Thompson, Deborah
AU  - Thompson D
FAU - Kelly, Patrick
AU  - Kelly P
FAU - Renwick, Anthony
AU  - Renwick A
FAU - Elliott, Anna
AU  - Elliott A
FAU - Reid, Sarah
AU  - Reid S
FAU - Spanova, Katarina
AU  - Spanova K
FAU - Barfoot, Rita
AU  - Barfoot R
FAU - Chagtai, Tasnim
AU  - Chagtai T
FAU - Jayatilake, Hiran
AU  - Jayatilake H
FAU - McGuffog, Lesley
AU  - McGuffog L
FAU - Hanks, Sandra
AU  - Hanks S
FAU - Evans, D Gareth
AU  - Evans DG
FAU - Eccles, Diana
AU  - Eccles D
CN  - Breast Cancer Susceptibility Collaboration (UK)
FAU - Easton, Douglas F
AU  - Easton DF
FAU - Stratton, Michael R
AU  - Stratton MR
LA  - eng
GR  - 077012/WT_/Wellcome Trust/United Kingdom
GR  - 2003:592/BCN_/Breast Cancer Now/United Kingdom
GR  - 2005NOV53/BCN_/Breast Cancer Now/United Kingdom
GR  - 068545/Z/02/WT_/Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
DEP - 20061231
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (BRCA2 Protein)
RN  - 0 (Fanconi Anemia Complementation Group N Protein)
RN  - 0 (Nuclear Proteins)
RN  - 0 (PALB2 protein, human)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
CIN - Nat Genet. 2007 Feb;39(2):142-3. PMID: 17262024
MH  - Adult
MH  - BRCA2 Protein/physiology
MH  - Breast Neoplasms/*genetics
MH  - Fanconi Anemia Complementation Group N Protein
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Nuclear Proteins/*genetics
MH  - Pedigree
MH  - Tumor Suppressor Proteins/*genetics
PMC - PMC2871593
MID - UKMS30578
OID - NLM: UKMS30578
EDAT- 2007/01/04 09:00
MHDA- 2007/04/24 09:00
PMCR- 2010/05/17
CRDT- 2007/01/04 09:00
PHST- 2006/10/24 00:00 [received]
PHST- 2006/12/08 00:00 [accepted]
PHST- 2007/01/04 09:00 [pubmed]
PHST- 2007/04/24 09:00 [medline]
PHST- 2007/01/04 09:00 [entrez]
PHST- 2010/05/17 00:00 [pmc-release]
AID - ng1959 [pii]
AID - 10.1038/ng1959 [doi]
PST - ppublish
SO  - Nat Genet. 2007 Feb;39(2):165-7. doi: 10.1038/ng1959. Epub 2006 Dec 31.