A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

Leila Mohammadi; Maaike P Vreeswijk; Rogier Oldenburg; Ans van den Ouweland; Jan C Oosterwijk; Annemarie H van der Hout; Nicoline Hoogerbrugge; Marjolijn Ligtenberg; Margreet G Ausems; Rob B van der Luijt; Charlotte J Dommering; Johan J Gille; Senno Verhoef; Frans B Hogervorst; Theo A van Os; Encarna Gómez García; Marinus J Blok; Juul T Wijnen; Quinta Helmer; Peter Devilee; Christi J van Asperen; Hans C van Houwelingen

doi:10.1186/1471-2407-9-211

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

BMC Cancer ◽

10.1186/1471-2407-9-211 ◽

2009 ◽

Vol 9 (1) ◽

Cited By ~ 36

Author(s):

Leila Mohammadi ◽

Maaike P Vreeswijk ◽

Rogier Oldenburg ◽

Ans van den Ouweland ◽

Jan C Oosterwijk ◽

...

Keyword(s):

Segregation Analysis ◽

Brca1 And Brca2 ◽

Simple Method ◽

Unclassified Variants

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Unclassified Variants in the Breast Cancer Susceptibility Genes BRCA1 and BRCA2

The Role of Genetics in Breast and Reproductive Cancers ◽

10.1007/978-1-4419-0477-5_3 ◽

2009 ◽

pp. 49-73 ◽

Cited By ~ 1

Author(s):

Sean V. Tavtigian

Keyword(s):

Breast Cancer ◽

Cancer Susceptibility ◽

Breast Cancer Susceptibility ◽

Susceptibility Genes ◽

Brca1 And Brca2 ◽

Unclassified Variants ◽

Cancer Susceptibility Genes ◽

Breast Cancer Susceptibility Genes

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Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes

Journal of Medical Genetics ◽

10.1136/jmedgenet-2011-100305 ◽

2011 ◽

Vol 48 (11) ◽

pp. 783-786 ◽

Cited By ~ 10

Author(s):

M. R. Akbari ◽

S. Zhang ◽

I. Fan ◽

R. Royer ◽

S. Li ◽

...

Keyword(s):

Clinical Impact ◽

Brca1 And Brca2 ◽

Unclassified Variants ◽

Brca1 And Brca2 Genes

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Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Journal of Medical Genetics ◽

10.1136/jmg.2007.056895 ◽

2008 ◽

Vol 45 (7) ◽

pp. 438-446 ◽

Cited By ~ 83

Author(s):

C Bonnet ◽

S Krieger ◽

M Vezain ◽

A Rousselin ◽

I Tournier ◽

...

Keyword(s):

Reverse Transcription ◽

Ex Vivo ◽

Brca1 And Brca2 ◽

Unclassified Variants ◽

Reverse Transcription Pcr ◽

Splicing Mutations ◽

Ex Vivo Assay

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Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families

Journal of Molecular Diagnostics ◽

10.1016/j.jmoldx.2014.01.005 ◽

2014 ◽

Vol 16 (3) ◽

pp. 324-334 ◽

Cited By ~ 14

Author(s):

Catarina Santos ◽

Ana Peixoto ◽

Patrícia Rocha ◽

Pedro Pinto ◽

Susana Bizarro ◽

...

Keyword(s):

Ovarian Cancer ◽

Brca1 And Brca2 ◽

Unclassified Variants

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Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals

The Breast ◽

10.1016/j.breast.2017.09.007 ◽

2017 ◽

Vol 36 ◽

pp. 74-78 ◽

Cited By ~ 4

Author(s):

Concetta Santonocito ◽

Margherita Scapaticci ◽

Donatella Guarino ◽

Andrea Bartolini ◽

Angelo Minucci ◽

...

Keyword(s):

Brca1 And Brca2 ◽

Unclassified Variants ◽

Brca1 And Brca2 Genes

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BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: Novel mutations and unclassified variants

Gynecologic Oncology ◽

10.1016/j.ygyno.2012.03.007 ◽

2012 ◽

Vol 125 (3) ◽

pp. 687-692 ◽

Cited By ~ 30

Author(s):

Amal Tazzite ◽

Hassan Jouhadi ◽

Sellama Nadifi ◽

Paolo Aretini ◽

Elisabetta Falaschi ◽

...

Keyword(s):

Ovarian Cancer ◽

Germline Mutations ◽

Novel Mutations ◽

Brca1 And Brca2 ◽

Unclassified Variants

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BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

Breast Cancer Research and Treatment ◽

10.1007/s10549-010-1320-2 ◽

2010 ◽

Vol 128 (1) ◽

pp. 211-218 ◽

Cited By ~ 18

Author(s):

L. Delgado ◽

G. Fernández ◽

G. Grotiuz ◽

S. Cataldi ◽

A. González ◽

...

Keyword(s):

Ovarian Cancer ◽

Germline Mutations ◽

Novel Mutations ◽

Brca1 And Brca2 ◽

Unclassified Variants

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Novel BRCA1 and BRCA2 Deleterious Mutations and Unclassified Variants in Egyptian Female Breast Cancer Patients

10.28991/iccr-2019-016 ◽

2019 ◽

Author(s):

Hala O. El-Mesallamy ◽

Sherihan G. AbdelHamid ◽

Hany AbdelAziz ◽

Abdel-Rahman N. Zekri

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Female Breast Cancer ◽

Deleterious Mutations ◽

Breast Cancer Patients ◽

Brca1 And Brca2 ◽

Unclassified Variants ◽

Female Breast

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Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer

International Journal of Gynecological Cancer ◽

10.1097/igc.0000000000001161 ◽

2018 ◽

Vol 28 (2) ◽

pp. 308-315 ◽

Cited By ~ 5

Author(s):

Min Chul Choi ◽

Ja-Hyun Jang ◽

Sang Geun Jung ◽

Hyun Park ◽

Won Duk Joo ◽

...

Keyword(s):

Ovarian Cancer ◽

Brca1 And Brca2 ◽

Korean Patients ◽

Unclassified Variants

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Single-Strand Conformation Polymorphism Analysis by Capillary and Microchip Electrophoresis: A Fast, Simple Method for Detection of Common Mutations in BRCA1 and BRCA2

Genomics ◽

10.1006/geno.1999.6067 ◽

2000 ◽

Vol 63 (1) ◽

pp. 25-34 ◽

Cited By ~ 81

Author(s):

Huijun Tian ◽

Andrea Jaquins-Gerstl ◽

Nicole Munro ◽

Massimo Trucco ◽

Lawrence C Brody ◽

...

Keyword(s):

Single Strand Conformation Polymorphism ◽

Microchip Electrophoresis ◽

Single Strand ◽

Polymorphism Analysis ◽

Brca1 And Brca2 ◽

Simple Method ◽

Conformation Polymorphism Analysis ◽

Conformation Polymorphism

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