Literature DB >> 28258387

[BRCA diagnostics of ovarian cancer : Molecular tumor testing since the introduction of PARP inhibitor therapy].

H Löser1, C Heydt1, R Büttner1, B Markiefka2.   

Abstract

Approximately 9000 women are diagnosed with ovarian cancer in Germany each year. The most common subtype is high-grade serous ovarian cancer. A relevant proportion of these tumors are associated with mutations in the breast and ovarian cancer susceptibility genes (BRCA1 and BRCA2) representing highly penetrant tumor suppressor genes with autosomal inheritance and play a crucial role in DNA repair mechanisms. These patients have predominantly germline mutations and less frequently have somatic BRCA mutations. Tumors harboring BRCA mutations show a significant improvement in progression-free survival under therapy with poly(adenosine diphosphate ribose) polymerase (PARP) inhibitors. In 2015 the first PARP inhibitor was approved for the therapy of high-grade serous ovarian cancer with BRCA mutations. Mutation analysis can be performed on formalin-fixed paraffin-embedded (FFPE) tumor tissue within a few days.

Entities:  

Keywords:  DNA; FFPE material; High-grade serous ovarian cancer; Mutational analysis; Olaparib

Mesh:

Substances:

Year:  2017        PMID: 28258387     DOI: 10.1007/s00292-017-0274-0

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  28 in total

Review 1.  Poly(Adenosine diphosphate-ribose) polymerase inhibitors in cancer treatment.

Authors:  Sook Ryun Park; Alice Chen
Journal:  Hematol Oncol Clin North Am       Date:  2012-06       Impact factor: 3.722

2.  Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Authors:  Luciano G Martelotto; Charlotte Ky Ng; Maria R De Filippo; Yan Zhang; Salvatore Piscuoglio; Raymond S Lim; Ronglai Shen; Larry Norton; Jorge S Reis-Filho; Britta Weigelt
Journal:  Genome Biol       Date:  2014-10-28       Impact factor: 13.583

3.  Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer.

Authors:  Bryan T J Hennessy; Kirsten M Timms; Mark S Carey; Alexander Gutin; Larissa A Meyer; Darl D Flake; Victor Abkevich; Jennifer Potter; Dmitry Pruss; Pat Glenn; Yang Li; Jie Li; Ana Maria Gonzalez-Angulo; Karen Smith McCune; Maurie Markman; Russell R Broaddus; Jerry S Lanchbury; Karen H Lu; Gordon B Mills
Journal:  J Clin Oncol       Date:  2010-07-06       Impact factor: 44.544

4.  Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2.

Authors:  S K Sharan; M Morimatsu; U Albrecht; D S Lim; E Regel; C Dinh; A Sands; G Eichele; P Hasty; A Bradley
Journal:  Nature       Date:  1997-04-24       Impact factor: 49.962

5.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

Authors:  Y Miki; J Swensen; D Shattuck-Eidens; P A Futreal; K Harshman; S Tavtigian; Q Liu; C Cochran; L M Bennett; W Ding
Journal:  Science       Date:  1994-10-07       Impact factor: 47.728

6.  Role of surgical outcome as prognostic factor in advanced epithelial ovarian cancer: a combined exploratory analysis of 3 prospectively randomized phase 3 multicenter trials: by the Arbeitsgemeinschaft Gynaekologische Onkologie Studiengruppe Ovarialkarzinom (AGO-OVAR) and the Groupe d'Investigateurs Nationaux Pour les Etudes des Cancers de l'Ovaire (GINECO).

Authors:  Andreas du Bois; Alexander Reuss; Eric Pujade-Lauraine; Philipp Harter; Isabelle Ray-Coquard; Jacobus Pfisterer
Journal:  Cancer       Date:  2009-03-15       Impact factor: 6.860

7.  NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.

Authors:  Volker Endris; Albrecht Stenzinger; Nicole Pfarr; Roland Penzel; Markus Möbs; Dido Lenze; Silvia Darb-Esfahani; Michael Hummel; Andreas Jung; Ulrich Lehmann; Hans Kreipe; Thomas Kirchner; Reinhard Büttner; Wolfram Jochum; Gerald Höfler; Manfred Dietel; Wilko Weichert; Peter Schirmacher
Journal:  Virchows Arch       Date:  2016-03-22       Impact factor: 4.064

8.  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

9.  Clinical Considerations of BRCA1- and BRCA2-Mutation Carriers: A Review.

Authors:  O Bougie; J I Weberpals
Journal:  Int J Surg Oncol       Date:  2011-08-08

10.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

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