Literature DB >> 15689453

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman.   

Abstract

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Year:  2005        PMID: 15689453      PMCID: PMC1735989          DOI: 10.1136/jmg.2004.022673

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  38 in total

Review 1.  Squamous cell carcinomas of the head and neck in Fanconi anemia: risk, prevention, therapy, and the need for guidelines.

Authors:  K Scheckenbach; M Wagenmann; M Freund; J Schipper; H Hanenberg
Journal:  Klin Padiatr       Date:  2012-04-13       Impact factor: 1.349

Review 2.  Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis.

Authors:  Mary Ellen Moynahan; Maria Jasin
Journal:  Nat Rev Mol Cell Biol       Date:  2010-03       Impact factor: 94.444

Review 3.  Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers.

Authors:  Ronald S Cheung; Toshiyasu Taniguchi
Journal:  Int J Hematol       Date:  2017-06-19       Impact factor: 2.490

Review 4.  Use of association studies to define genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:  David J Hughes
Journal:  Fam Cancer       Date:  2008-02-19       Impact factor: 2.375

5.  Scaling up to study brca2: the zeppelin zebrafish mutant reveals a role for brca2 in embryonic development of kidney mesoderm.

Authors:  Bridgette E Drummond; Rebecca A Wingert
Journal:  Cancer Cell Microenviron       Date:  2018-04-09

6.  Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions.

Authors:  Hiroshi Saeki; Nicolas Siaud; Nicole Christ; Wouter W Wiegant; Paul P W van Buul; Mingguang Han; Malgorzata Z Zdzienicka; Jeremy M Stark; Maria Jasin
Journal:  Proc Natl Acad Sci U S A       Date:  2006-05-26       Impact factor: 11.205

7.  BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

Authors:  Eswary Thirthagiri; Kimberly D Klarmann; Anil K Shukla; Eileen Southon; Kajal Biswas; Betty K Martin; Susan Lynn North; Valentin Magidson; Sandra Burkett; Diana C Haines; Kathleen Noer; Roberta Matthai; Lino Tessarollo; Jadranka Loncarek; Jonathan R Keller; Shyam K Sharan
Journal:  Hum Mol Genet       Date:  2016-02-26       Impact factor: 6.150

8.  A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma.

Authors:  Fatemeh Abbaszadeh; Karen T Barker; Carmel McConville; Richard H Scott; Nazneen Rahman
Journal:  Fam Cancer       Date:  2010-09       Impact factor: 2.375

9.  Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Authors:  Candice Feben; Careni Spencer; Anneline Lochan; Nakita Laing; Karen Fieggen; Engela Honey; Tasha Wainstein; Amanda Krause
Journal:  Fam Cancer       Date:  2017-07       Impact factor: 2.375

Review 10.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Authors:  Katharina Wimmer; Julia Etzler
Journal:  Hum Genet       Date:  2008-08-18       Impact factor: 4.132

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