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Items: 1 to 20 of 104

1.

Accuracy of BRCA1 and BRCA2 founder mutation analysis in formalin-fixed and paraffin-embedded (FFPE) tissue.

Adank MA, Brogi E, Bogomolniy F, Wadsworth EA, Lafaro KJ, Yee CJ, Kirchhoff T, Meijers-Heijboer EJ, Kauff ND, Boyd J, Offit K.

Fam Cancer. 2006;5(4):337-42. Epub 2006 May 25.

PMID:
16724247
2.

Detection of BRCA1 and BRCA2 Ashkenazi Jewish founder mutations in formalin-fixed paraffin-embedded tissues using conventional PCR and heteroduplex/amplicon size differences.

Mangold KA, Wang V, Weissman SM, Rubinstein WS, Kaul KL.

J Mol Diagn. 2010 Jan;12(1):20-6. doi: 10.2353/jmoldx.2010.090023. Epub 2009 Dec 3.

3.

A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing.

Zhang L, Kirchhoff T, Yee CJ, Offit K.

J Mol Diagn. 2009 May;11(3):176-81. doi: 10.2353/jmoldx.2009.080137. Epub 2009 Mar 26.

4.

Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients.

Tobias DH, Eng C, McCurdy LD, Kalir T, Mandelli J, Dottino PR, Cohen CJ.

Gynecol Oncol. 2000 Aug;78(2):148-51.

PMID:
10926794
5.

Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations.

Robson M, Levin D, Federici M, Satagopan J, Bogolminy F, Heerdt A, Borgen P, McCormick B, Hudis C, Norton L, Boyd J, Offit K.

J Natl Cancer Inst. 1999 Dec 15;91(24):2112-7.

PMID:
10601383
6.

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.

Petersen AH, Aagaard MM, Nielsen HR, Steffensen KD, Waldstrøm M, Bojesen A.

Eur J Hum Genet. 2016 Aug;24(8):1104-11. doi: 10.1038/ejhg.2015.268. Epub 2016 Jan 6.

7.

BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer.

Niell BL, Rennert G, Bonner JD, Almog R, Tomsho LP, Gruber SB.

J Natl Cancer Inst. 2004 Jan 7;96(1):15-21.

PMID:
14709734
8.

Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population.

Khoo US, Chan KY, Cheung AN, Xue WC, Shen DH, Fung KY, Ngan HY, Choy KW, Pang CP, Poon CS, Poon AY, Ozcelik H.

Hum Mutat. 2002 Mar;19(3):307-8.

PMID:
11857749
9.

BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma.

Ferrone CR, Levine DA, Tang LH, Allen PJ, Jarnagin W, Brennan MF, Offit K, Robson ME.

J Clin Oncol. 2009 Jan 20;27(3):433-8. doi: 10.1200/JCO.2008.18.5546. Epub 2008 Dec 8.

10.

Application of multiplex PCR with histopathologic features for detection of familial breast cancer in formalin-fixed, paraffin-embedded histologic specimens.

Rassi H, Houshmand M, Hashemi M, Majidzadeh K, Akbari MH, Panahi MS.

Tsitol Genet. 2008 Mar-Apr;42(2):55-62.

PMID:
18630122
11.

The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, Mason BA, Rebbeck TR, Nathanson KL.

Cancer Res. 2008 Sep 1;68(17):7006-14. doi: 10.1158/0008-5472.CAN-08-0599. Epub 2008 Aug 14.

12.

Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibáñez M, Blazer KR, Weitzel JN.

Cancer. 2015 Feb 1;121(3):372-8. doi: 10.1002/cncr.29058. Epub 2014 Sep 18.

13.

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.

Takano EA, Mitchell G, Fox SB, Dobrovic A.

BMC Cancer. 2008 Feb 25;8:59. doi: 10.1186/1471-2407-8-59.

14.

A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes.

Kuperstein G, Foulkes WD, Ghadirian P, Hakimi J, Narod SA.

Clin Genet. 2000 Mar;57(3):213-20.

PMID:
10782928
15.

Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families.

Cierniková S, Tomka M, Kovác M, Stevurková V, Zajac V.

Neoplasma. 2006;53(2):97-102.

PMID:
16575464
16.

Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India.

Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, Kant R, Gupta V, Shukla NK, Deo SS, Das BC.

Breast Cancer Res Treat. 2004 Nov;88(2):177-86.

PMID:
15564800
17.

Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Kwong A, Ng EK, Wong CL, Law FB, Au T, Wong HN, Kurian AW, West DW, Ford JM, Ma ES.

PLoS One. 2012;7(9):e43994. doi: 10.1371/journal.pone.0043994. Epub 2012 Sep 7.

18.

A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing.

Ellison G, Huang S, Carr H, Wallace A, Ahdesmaki M, Bhaskar S, Mills J.

BMC Clin Pathol. 2015 Mar 24;15:5. doi: 10.1186/s12907-015-0004-6. eCollection 2015.

19.

BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.

Mafficini A, Simbolo M, Parisi A, Rusev B, Luchini C, Cataldo I, Piazzola E, Sperandio N, Turri G, Franchi M, Tortora G, Bovo C, Lawlor RT, Scarpa A.

Oncotarget. 2016 Jan 12;7(2):1076-83. doi: 10.18632/oncotarget.6834.

20.

Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial.

Kapp JR, Diss T, Spicer J, Gandy M, Schrijver I, Jennings LJ, Li MM, Tsongalis GJ, de Castro DG, Bridge JA, Wallace A, Deignan JL, Hing S, Butler R, Verghese E, Latham GJ, Hamoudi RA.

J Clin Pathol. 2015 Feb;68(2):111-8. doi: 10.1136/jclinpath-2014-202644. Epub 2014 Nov 27.

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