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Items: 1 to 20 of 82

1.

BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study.

Smith LD, Tesoriero AA, Ramus SJ, Dite G, Royce SG, Giles GG, McCredie MR, Hopper JL, Southey MC.

Eur J Cancer. 2007 Mar;43(5):823-7. Epub 2007 Feb 21.

2.

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry.

Smith LD, Tesoriero AA, Wong EM, Ramus SJ, O'Malley FP, Mulligan AM, Terry MB, Senie RT, Santella RM, John EM, Andrulis IL, Ozcelik H, Daly MB, Godwin AK, Buys SS, Fox S, Goldgar DE, Giles GG, Hopper JL, Southey MC.

Breast Cancer Res. 2011 Jan 31;13(1):R14. doi: 10.1186/bcr2822.

3.

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.

Vasickova P, Machackova E, Lukesova M, Damborsky J, Horky O, Pavlu H, Kuklova J, Kosinova V, Navratilova M, Foretova L.

BMC Med Genet. 2007 Jun 11;8:32.

4.
5.

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
6.

Frequency of breast cancer attributable to BRCA1 in a population-based series of American women.

Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC.

JAMA. 1998 Mar 25;279(12):915-21.

PMID:
9544765
7.

BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.

Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA.

JAMA. 1998 Mar 25;279(12):922-9.

PMID:
9544766
8.

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

9.

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

Janatova M, Kleibl Z, Stribrna J, Panczak A, Vesela K, Zimovjanova M, Kleiblova P, Dundr P, Soukupova J, Pohlreich P.

Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2323-32. doi: 10.1158/1055-9965.EPI-13-0745-T. Epub 2013 Oct 17.

10.

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
11.
12.

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

van den Ouweland AM, Dinjens WN, Dorssers LC, van Veghel-Plandsoen MM, Brüggenwirth HT, Withagen-Hermans CJ, Collée JM, Joosse SA, Terlouw-Kromosoeto JN, Nederlof PM.

Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406. doi: 10.1089/gtmb.2008.0155.

PMID:
19405878
13.

Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients.

Armaou S, Konstantopoulou I, Anagnostopoulos T, Razis E, Boukovinas I, Xenidis N, Fountzilas G, Yannoukakos D.

Eur J Cancer. 2007 Jan;43(2):443-53. Epub 2006 Dec 14.

PMID:
17174087
14.

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

Ratajska M, Brozek I, Senkus-Konefka E, Jassem J, Stepnowska M, Palomba G, Pisano M, Casula M, Palmieri G, Borg A, Limon J.

Oncol Rep. 2008 Jan;19(1):263-8.

PMID:
18097605
15.

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.

Marino M, Rabacchi C, Simone ML, Medici V, Cortesi L, Calandra S.

Clin Chim Acta. 2009 May;403(1-2):249-53. doi: 10.1016/j.cca.2009.02.020. Epub 2009 Mar 25.

PMID:
19393826
16.

Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions.

Catteau A, Xu CF, Brown MA, Hodgson S, Greenman J, Mathew CG, Dunning AM, Solomon E.

Br J Cancer. 1999 Feb;79(5-6):759-63.

17.

Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases.

Armaou S, Pertesi M, Fostira F, Thodi G, Athanasopoulos PS, Kamakari S, Athanasiou A, Gogas H, Yannoukakos D, Fountzilas G, Konstantopoulou I.

Br J Cancer. 2009 Jul 7;101(1):32-7. doi: 10.1038/sj.bjc.6605115. Epub 2009 Jun 2.

18.

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Krajc M, Teugels E, Zgajnar J, Goelen G, Besic N, Novakovic S, Hocevar M, De Grève J.

BMC Med Genet. 2008 Sep 10;9:83. doi: 10.1186/1471-2350-9-83.

19.

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
20.

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

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