Literature DB >> 15951973

The BRCA1 exon 13 duplication in the Swedish population.

Barbara Kremeyer1, Maria Soller, Kristina Lagerstedt, Paula Maguire, Sylvie Mazoyer, Margareta Nordling, Jan Wahlström, Annika Lindblom.   

Abstract

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Year:  2005        PMID： 15951973     DOI： 10.1007/s10689-004-7023-2

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


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  19 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

2.  Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Authors:  Federica Casilli; Zorika Christiana Di Rocco; Sophie Gad; Isabelle Tournier; Dominique Stoppa-Lyonnet; Thierry Frebourg; Mario Tosi
Journal:  Hum Mutat       Date:  2002-09       Impact factor: 4.878

3.  Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions.

Authors:  N Puget; D Stoppa-Lyonnet; O M Sinilnikova; S Pagès; H T Lynch; G M Lenoir; S Mazoyer
Journal:  Cancer Res       Date:  1999-01-15       Impact factor: 12.701

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

Authors:  N Puget; O M Sinilnikova; D Stoppa-Lyonnet; C Audoynaud; S Pagès; H T Lynch; D Goldgar; G M Lenoir; S Mazoyer
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

5.  Computer programs for multilocus haplotyping of general pedigrees.

Authors:  D E Weeks; E Sobel; J R O'Connell; K Lange
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

6.  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

7.  Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family.

Authors:  J Swensen; M Hoffman; M H Skolnick; S L Neuhausen
Journal:  Hum Mol Genet       Date:  1997-09       Impact factor: 6.150

8.  An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.

Authors:  E M Rohlfs; N Puget; M L Graham; B L Weber; J E Garber; C Skrzynia; J L Halperin; G M Lenoir; L M Silverman; S Mazoyer
Journal:  Genes Chromosomes Cancer       Date:  2000-07       Impact factor: 5.006

9.  BRCA2 germline mutations in Swedish breast cancer families.

Authors:  J Chen; M Z Hedman; B W Arver; S Sigurdsson; J E Eyfjörd; A Lindblom
Journal:  Eur J Hum Genet       Date:  1998 Mar-Apr       Impact factor: 4.246

10.  Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination.

Authors:  Melissa A Brown; Li-Jan Lo; Aurélie Catteau; Chun-Fang Xu; Geoffrey J Lindeman; Shirley Hodgson; Ellen Solomon
Journal:  Hum Mutat       Date:  2002-04       Impact factor: 4.878
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  6 in total

1.  Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

Authors:  Chloé Tessereau; Yann Lesecque; Nastasia Monnet; Monique Buisson; Laure Barjhoux; Mélanie Léoné; Bingjian Feng; David E Goldgar; Olga M Sinilnikova; Sylvain Mousset; Laurent Duret; Sylvie Mazoyer
Journal:  Nucleic Acids Res       Date:  2014-07-17       Impact factor: 16.971

2.  Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.

Authors:  Anikó Bozsik; Tímea Pócza; János Papp; Tibor Vaszkó; Henriett Butz; Attila Patócs; Edit Oláh
Journal:  Int J Mol Sci       Date:  2020-06-30       Impact factor: 5.923

3.  Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Authors:  Oubaida ElBiad; Abdelilah Laraqui; Fatima El Boukhrissi; Chaimaa Mounjid; Maryame Lamsisi; Tahar Bajjou; Hicham Elannaz; Amine Idriss Lahlou; Jaouad Kouach; Khadija Benchekroune; Mohammed Oukabli; Hafsa Chahdi; Moulay Mustapha Ennaji; Rachid Tanz; Yassir Sbitti; Mohammed Ichou; Khalid Ennibi; Bouabid Badaoui; Yassine Sekhsokh
Journal:  BMC Cancer       Date:  2022-02-25       Impact factor: 4.430

4.  Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.

Authors:  Terhi Aino-Sofia Pallonen; Salla Maria Matleena Lempiäinen; Titta Kristiina Joutsiniemi; Riitta Irmeli Aaltonen; Pia Erika Pohjola; Minna Kristiina Kankuri-Tammilehto
Journal:  Sci Rep       Date:  2022-04-25       Impact factor: 4.996

5.  Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Authors:  Ramūnas Janavičius
Journal:  EPMA J       Date:  2010-06-27       Impact factor: 6.543

6.  The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.

Authors:  Nerina C van der Merwe; Jaco Oosthuizen; Magdalena Theron; George Chong; William D Foulkes
Journal:  BMC Cancer       Date:  2020-05-06       Impact factor: 4.430
  6 in total

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