Literature DB >> 9915971

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

N Puget, O M Sinilnikova, D Stoppa-Lyonnet, C Audoynaud, S Pagès, H T Lynch, D Goldgar, G M Lenoir, S Mazoyer.   

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Year:  1999        PMID： 9915971      PMCID： PMC1377730          DOI： 10.1086/302211

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  29 in total

1.  After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer.

Authors:  J Cui; A C Antoniou; G S Dite; M C Southey; D J Venter; D F Easton; G G Giles; M R McCredie; J L Hopper
Journal:  Am J Hum Genet       Date:  2000-12-27       Impact factor: 11.025

2.  The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.

Authors: 
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

3.  Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot.

Authors:  Nadine Puget; Sophie Gad; Laure Perrin-Vidoz; Olga M Sinilnikova; Dominique Stoppa-Lyonnet; Gilbert M Lenoir; Sylvie Mazoyer
Journal:  Am J Hum Genet       Date:  2002-03-05       Impact factor: 11.025

4.  The BRCA1 exon 13 duplication in the Swedish population.

Authors:  Barbara Kremeyer; Maria Soller; Kristina Lagerstedt; Paula Maguire; Sylvie Mazoyer; Margareta Nordling; Jan Wahlström; Annika Lindblom
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

5.  Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers.

Authors:  G Chenevix-Trench; O M Sinilnikova; G Suthers; N Pandeya; S Mazoyer; J F Sambrook; S Goldup; D Goldgar; H T Lynch; G M Lenoir; G Cheetham
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

Review 6.  An alternative approach to medical genetics based on modern evolutionary biology. Part 4: HERVs in cancer.

Authors:  Frank P Ryan
Journal:  J R Soc Med       Date:  2009-11       Impact factor: 5.344

Review 7.  Nuclear function of Alus.

Authors:  Chen Wang; Sui Huang
Journal:  Nucleus       Date:  2014-02-04       Impact factor: 4.197

8.  Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.

Authors:  M A Unger; K L Nathanson; K Calzone; D Antin-Ozerkis; H A Shih; A M Martin; G M Lenoir; S Mazoyer; B L Weber
Journal:  Am J Hum Genet       Date:  2000-09-07       Impact factor: 11.025

Review 9.  The contribution of BRCA1 and BRCA2 to ovarian cancer.

Authors:  Susan J Ramus; Simon A Gayther
Journal:  Mol Oncol       Date:  2009-02-10       Impact factor: 6.603

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

Authors:  Maurizia Dalla Palma; Susan M Domchek; Jill Stopfer; Julie Erlichman; Jill D Siegfried; Jessica Tigges-Cardwell; Bernard A Mason; Timothy R Rebbeck; Katherine L Nathanson
Journal:  Cancer Res       Date:  2008-08-14       Impact factor: 12.701
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