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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs…

De Nicolo(Arcangela),Tancredi(Mariella),Lomb… Clin Cancer Res 2008-09-16

BRCA1-interacting protein 1 (BRIP1; FANCJ/BACH1), which encodes a DNA helicase that interacts with BRCA1, has been sugge...

Intrinsic disorder in scaffold proteins: getting more from less.

Cortese(Marc S),Uversky(Vladimir N),Dunker(A… Prog Biophys Mol Biol 2008-11-13

...BRCA1, GSK-3beta, p53, Ste5, titin, Fus3, BRCA1, MAP2, D-AKAP2 and AKAP250. Among the mechanisms discussed are: molecula...

Cascade screening in BRCA1/2 mutation carriers.

Cody(N),Green(A),McDevitt(T),Lynch(S A) Ir Med J 2008-09-10

Genetic counselling for families with BRCA1 & 2 has been available in Ireland since 1998. We describe the follow-on casc...

Application of multiplex PCR with histopathologic features for detection of fam…

Rassi(H),Houshmand(M),Hashemi(M),Majidzadeh(… Tsitol Genet 2008-08-08

...BRCA1 and BRCA2 genes are associated with a greatly increased risk for development of familial breast cancer. Frequency ...

Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 a…

Bradbury(Angela R),Ibe(Comfort N),Dignam(Jam… Genet Med 2008-08-08

...BRCA1/2 mutation carriers in a cancer risk assessment program.,Clinical records of female BRCA1/2 mutation carriers who ...

Expression of the BRCA1-interacting protein Brip1/BACH1/FANCJ is driven by E2F …

Eelen(G),Vanden Bempt(I),Verlinden(L),Drijko… Oncogene 2008-08-12

...BRCA1-interacting DEAH helicase Brip1 confer an increased risk of breast cancer. In the present study we aimed to unrave...

Factors determining dissemination of results and uptake of genetic testing in f…

Finlay(Esme),Stopfer(Jill E),Burlingame(Eric… Genet Test 2008-06-12

...BRCA1 and BRCA2 (BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake pat...

Mutation analysis and characterization of HSD17B2 sequence variants in breast c…

Plourde(Marie),Manhes(Caroline),Leblanc(Gill… J Mol Endocrinol 2008-04-30

...BRCA1/2 high-risk French Canadian families. However, six sequence variants were identified, including two novel missense...

Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 tes…

Peshkin(Beth N),Demarco(Tiffani A),Graves(Kr… Genet Test 2008-06-12

...BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the...

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2,…

Staaf(Johan),Törngren(Therese),Rambech(Eva),… Hum Mutat 2008-04-16

...BRCA1 (n=11), BRCA2 (n=2), MSH2 (n=7), or MLH1 (n=9). Additionally, we demonstrate its applicability for uncovering comp...

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