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Items: 1 to 20 of 99

1.

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.

Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sánchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Díaz-Rubio E, Díez O, Caldés T, de la Hoya M.

Breast Cancer Res Treat. 2012 May;133(1):273-83. doi: 10.1007/s10549-011-1909-0. Epub 2012 Mar 21. Review.

PMID:
22434521
2.

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene.

Ticha I, Kleibl Z, Stribrna J, Kotlas J, Zimovjanova M, Mateju M, Zikan M, Pohlreich P.

Breast Cancer Res Treat. 2010 Nov;124(2):337-47. doi: 10.1007/s10549-010-0745-y. Epub 2010 Feb 5.

PMID:
20135348
3.

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

de la Hoya M, Gutiérrez-Enríquez S, Velasco E, Osorio A, Sanchez de Abajo A, Vega A, Salazar R, Esteban E, Llort G, Gonzalez-Sarmiento R, Carracedo A, Benítez J, Miner C, Díez O, Díaz-Rubio E, Caldes T.

Clin Chem. 2006 Aug;52(8):1480-5. Epub 2006 Jun 22.

4.

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.

Fachal L, Blanco A, Santamariña M, Carracedo A, Vega A.

PLoS One. 2014 Mar 31;9(3):e93306. doi: 10.1371/journal.pone.0093306. eCollection 2014 Mar 31.

5.

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.

Engert S, Wappenschmidt B, Betz B, Kast K, Kutsche M, Hellebrand H, Goecke TO, Kiechle M, Niederacher D, Schmutzler RK, Meindl A.

Hum Mutat. 2008 Jul;29(7):948-58. doi: 10.1002/humu.20723.

PMID:
18431737
6.

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation.

Sluiter MD, van Rensburg EJ.

Breast Cancer Res Treat. 2011 Jan;125(2):325-49. doi: 10.1007/s10549-010-0817-z. Epub 2010 Mar 16.

PMID:
20232141
7.

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, Tejada MI, Caldés T, Diez O.

Breast Cancer Res Treat. 2007 May;103(1):103-7. Epub 2006 Oct 25.

PMID:
17063271
8.

Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families.

Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, Thong MK, Mohd Taib NA, Yip CH, Teo SH.

Breast Cancer Res Treat. 2010 Nov;124(2):579-84. doi: 10.1007/s10549-010-1018-5. Epub 2010 Jul 9.

PMID:
20617377
9.

Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family.

Palanca Suela S, Esteban Cardeñosa E, Barragán González E, Oltra Soler S, de Juan Jiménez I, Chirivella González I, Segura Huerta A, Guillén Ponce C, Martínez de Dueñas E, Bolufer Gilabert P; Group for Assessment of Hereditary Cancer of Valencia Community..

Breast Cancer Res Treat. 2008 Nov;112(1):63-7. Epub 2007 Dec 1.

PMID:
18060491
10.

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

Konecny M, Milly M, Zavodna K, Weismanova E, Gregorova J, Mlkva I, Ilencikova D, Kausitz J, Bartosova Z.

Breast Cancer Res Treat. 2011 Feb;126(1):119-30. doi: 10.1007/s10549-010-1325-x. Epub 2011 Jan 4.

PMID:
21203900
11.

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

Miramar MD, Calvo MT, Rodriguez A, Antón A, Lorente F, Barrio E, Herrero A, Burriel J, García de Jalón A.

Breast Cancer Res Treat. 2008 Nov;112(2):353-8. doi: 10.1007/s10549-007-9868-1. Epub 2008 Jan 4.

PMID:
18176857
12.

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Seong MW, Cho S, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim SY, Kim JY, Park SS.

Clin Genet. 2009 Aug;76(2):152-60. doi: 10.1111/j.1399-0004.2009.01202.x. Epub 2009 Jul 28.

PMID:
19656164
13.

Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

Pylkäs K, Erkko H, Nikkilä J, Sólyom S, Winqvist R.

BMC Cancer. 2008 May 26;8:146. doi: 10.1186/1471-2407-8-146.

14.

Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

Cavallone L, Arcand SL, Maugard CM, Nolet S, Gaboury LA, Mes-Masson AM, Ghadirian P, Provencher D, Tonin PN.

Fam Cancer. 2010 Dec;9(4):507-17. doi: 10.1007/s10689-010-9372-3.

PMID:
20694749
15.

A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.

Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, Noh WC, Chang MC, Park SS, Kim SW; Korean Hereditary Breast Cancer Study Group..

BMC Cancer. 2014 Sep 1;14:645. doi: 10.1186/1471-2407-14-645.

16.

Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.

Preisler-Adams S, Schönbuchner I, Fiebig B, Welling B, Dworniczak B, Weber BH.

Cancer Genet Cytogenet. 2006 Jul 1;168(1):44-9.

PMID:
16772120
17.

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

del Valle J, Feliubadaló L, Nadal M, Teulé A, Miró R, Cuesta R, Tornero E, Menéndez M, Darder E, Brunet J, Capellà G, Blanco I, Lázaro C.

Breast Cancer Res Treat. 2010 Aug;122(3):733-43. doi: 10.1007/s10549-009-0613-9. Epub 2009 Nov 6.

PMID:
19894111
18.

Searching for large genomic rearrangements of the BRCA1 gene in a Nigerian population.

Zhang J, Fackenthal JD, Huo D, Zheng Y, Olopade OI.

Breast Cancer Res Treat. 2010 Nov;124(2):573-7. doi: 10.1007/s10549-010-1006-9. Epub 2010 Jul 2.

PMID:
20596889
19.

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

Romero A, Garre P, Valentin O, Sanz J, Pérez-Segura P, Llovet P, Díaz-Rubio E, de la Hoya M, Caldés T.

PLoS One. 2013 Sep 11;8(9):e72195. doi: 10.1371/journal.pone.0072195. eCollection 2013 Sep 11.

20.

Large genomic deletions inactivate the BRCA2 gene in breast cancer families.

Agata S, Dalla Palma M, Callegaro M, Scaini MC, Menin C, Ghiotto C, Nicoletto O, Zavagno G, Chieco-Bianchi L, D'Andrea E, Montagna M.

J Med Genet. 2005 Oct;42(10):e64.

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