Literature DB >> 19629752

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

Emma Edwards1, Catharina Yearwood, Julie Sillibourne, Diana Baralle, Diana Eccles.   

Abstract

De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.

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Year:  2009        PMID： 19629752     DOI： 10.1007/s10689-009-9270-8

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


  27 in total

1.  De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation.

Authors:  A Tesoriero; C Andersen; M Southey; G Somers; M McKay; J Armes; M McCredie; G Giles; J L Hopper; D Venter
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO.

Authors:  D G R Evans; D M Eccles; N Rahman; K Young; M Bulman; E Amir; A Shenton; A Howell; F Lalloo
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

3.  A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

Authors:  P Booms; A P Withers; M Boxer; U C Kaufmann; C Hagemeier; U Vetter; P N Robinson
Journal:  Hum Genet       Date:  1997-08       Impact factor: 4.132

4.  Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Authors:  M Loizidou; Y Marcou; V Anastasiadou; R Newbold; A Hadjisavvas; K Kyriacou
Journal:  Clin Genet       Date:  2007-02       Impact factor: 4.438

5.  Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Authors:  Meena Upadhyaya; Elisa Majounie; Peter Thompson; Song Han; Claudia Consoli; Michael Krawczak; Isobel Cordeiro; David N Cooper
Journal:  Hum Genet       Date:  2002-10-09       Impact factor: 4.132

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

Authors:  B Newman; H Mu; L M Butler; R C Millikan; P G Moorman; M C King
Journal:  JAMA       Date:  1998-03-25       Impact factor: 56.272

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.

Authors:  K E Malone; J R Daling; J D Thompson; C A O'Brien; L V Francisco; E A Ostrander
Journal:  JAMA       Date:  1998-03-25       Impact factor: 56.272

8.  Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer.

Authors:  H Anton-Culver; P F Cohen; M E Gildea; A Ziogas
Journal:  Eur J Cancer       Date:  2000-06       Impact factor: 9.162

9.  Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases.

Authors:  K E Malone; J R Daling; C Neal; N M Suter; C O'Brien; K Cushing-Haugen; T J Jonasdottir; J D Thompson; E A Ostrander
Journal:  Cancer       Date:  2000-03-15       Impact factor: 6.860

10.  BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer.

Authors:  M C Southey; A A Tesoriero; C R Andersen; K M Jennings; S M Brown; G S Dite; M A Jenkins; R H Osborne; J A Maskiell; L Porter; G G Giles; M R McCredie; J L Hopper; D J Venter
Journal:  Br J Cancer       Date:  1999-01       Impact factor: 7.640
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  12 in total

1.  Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.

Authors:  Ciyu Yang; Sowmya Jairam; Kimberly A Amoroso; Mark E Robson; Michael F Walsh; Liying Zhang
Journal:  Breast Cancer Res Treat       Date:  2017-11-28       Impact factor: 4.872

2.  Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.

Authors:  L Golmard; C Delnatte; A Laugé; V Moncoutier; C Lefol; K Abidallah; H Tenreiro; F Copigny; M Giraudeau; C Guy; C Barbaroux; G Amorim; A Briaux; V Guibert; J Tarabeux; S Caputo; A Collet; P Gesta; O Ingster; M-H Stern; E Rouleau; A de Pauw; M Gauthier-Villars; B Buecher; S Bézieau; D Stoppa-Lyonnet; C Houdayer
Journal:  Oncogene       Date:  2015-06-01       Impact factor: 9.867

3.  Routine TP53 testing for breast cancer under age 30: ready for prime time?

Authors:  Jeanna M McCuaig; Susan R Armel; Ana Novokmet; Ophira M Ginsburg; Rochelle Demsky; Steven A Narod; David Malkin
Journal:  Fam Cancer       Date:  2012-12       Impact factor: 2.375

4.  A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.

Authors:  Ava Kwong; Enders K O Ng; Edmund Y H Tang; Chris L P Wong; Fian B F Law; Candy P H Leung; Aaron Chan; M T Cheung; M Y To; Edmond S K Ma; Dee W West; James M Ford
Journal:  Fam Cancer       Date:  2011-06       Impact factor: 2.375

5.  A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Authors:  Zaida Garcia-Casado; Ignacio Romero; Antonio Fernandez-Serra; Luis Rubio; Francisco Llopis; Ana Garcia; Pilar Llombart; Jose A Lopez-Guerrero
Journal:  BMC Med Genet       Date:  2011-10-11       Impact factor: 2.103

6.  Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.

Authors:  E Friedman; N Efrat; L Soussan-Gutman; A Dvir; Y Kaplan; T Ekstein; K Nykamp; M Powers; M Rabideau; J Sorenson; S Topper
Journal:  Br J Cancer       Date:  2015-01-29       Impact factor: 7.640

7.  [Synchronous bilateral breast cancer in Morocco: epidemiological and clinical characteristics].

Authors:  Houssine Boufettal; Naïma Samouh
Journal:  Pan Afr Med J       Date:  2015-02-10

Review 8.  The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.

Authors:  Amir Mehrgou; Mansoureh Akouchekian
Journal:  Med J Islam Repub Iran       Date:  2016-05-15

9.  The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis.

Authors:  Alexandra Gráf; Márton Zsolt Enyedi; Lajos Pintér; Éva Kriston-Pál; Gábor Jaksa; Árpád Bálind; Éva Ezer; Péter Horváth; Farkas Sükösd; Ernő Kiss; Lajos Haracska
Journal:  Cancers (Basel)       Date:  2021-05-13       Impact factor: 6.639

10.  Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.

Authors:  Ava Kwong; Enders K O Ng; Fian B F Law; H N Wong; Anna Wa; Chris L P Wong; Allison W Kurian; Dee W West; James M Ford; Edmond S K Ma
Journal:  Breast Cancer Res Treat       Date:  2012-10-26       Impact factor: 4.872
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