Literature DB >> 20848107

[Hereditary breast and ovarian cancers].

H Gevensleben1, N Serçe, R Büttner.   

Abstract

Hereditary factors are responsible for 5-10% of all breast cancers and 10% of all ovarian cancer cases and are predominantly caused by mutations in the high risk genes BRCA1 and BRCA2 (BRCA: breast cancer). Additional moderate and low penetrance gene variants are currently being analyzed via whole genome association studies. Interdisciplinary counseling, quality managed genetic testing and intensified prevention efforts in specialized medical centres are essential for members of high risk families considering the high prevalence of malignant tumors and the early age of onset. Furthermore, the identification of BRCA-deficient carcinomas is of particular clinical interest, especially regarding new specific therapeutic options, e.g. treatment with poly (ADP-ribose) polymerase (PARP) inhibitors. There are presently no valid surrogate markers verifying the association of BRCA1/BRC2 in tumors. However, breast cancers harboring pathogenic BRCA1 mutations in particular display specific histopathological features.

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Year:  2010        PMID: 20848107     DOI: 10.1007/s00292-010-1355-5

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


  31 in total

1.  Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996.

Authors: 
Journal:  J Clin Oncol       Date:  1996-05       Impact factor: 44.544

2.  Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Authors:  Alfons Meindl; Heide Hellebrand; Constanze Wiek; Verena Erven; Barbara Wappenschmidt; Dieter Niederacher; Marcel Freund; Peter Lichtner; Linda Hartmann; Heiner Schaal; Juliane Ramser; Ellen Honisch; Christian Kubisch; Hans E Wichmann; Karin Kast; Helmut Deissler; Christoph Engel; Bertram Müller-Myhsok; Kornelia Neveling; Marion Kiechle; Christopher G Mathew; Detlev Schindler; Rita K Schmutzler; Helmut Hanenberg
Journal:  Nat Genet       Date:  2010-04-18       Impact factor: 38.330

3.  Optimal selection of individuals for BRCA mutation testing: a comparison of available methods.

Authors:  Paul A James; Rebecca Doherty; Marion Harris; Bickol N Mukesh; Alvin Milner; Mary-Anne Young; Clare Scott
Journal:  J Clin Oncol       Date:  2006-02-01       Impact factor: 44.544

4.  Distinguishing medullary carcinoma of the breast from high-grade hormone receptor-negative invasive ductal carcinoma: an immunohistochemical approach.

Authors:  Uta Flucke; Maria Theresia Flucke; Ludwig Hoy; Elisabeth Breuer; Rolf Goebbels; Kerstin Rhiem; Rita Schmutzler; Helene Winzenried; Michael Braun; Susanne Steiner; Reinhard Buettner; Heidrun Gevensleben
Journal:  Histopathology       Date:  2010-06       Impact factor: 5.087

5.  Cancer Incidence in BRCA1 mutation carriers.

Authors:  Deborah Thompson; Douglas F Easton
Journal:  J Natl Cancer Inst       Date:  2002-09-18       Impact factor: 13.506

6.  Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

Authors:  Sheila Seal; Deborah Thompson; Anthony Renwick; Anna Elliott; Patrick Kelly; Rita Barfoot; Tasnim Chagtai; Hiran Jayatilake; Munaza Ahmed; Katarina Spanova; Bernard North; Lesley McGuffog; D Gareth Evans; Diana Eccles; Douglas F Easton; Michael R Stratton; Nazneen Rahman
Journal:  Nat Genet       Date:  2006-10-08       Impact factor: 38.330

7.  PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Authors:  Nazneen Rahman; Sheila Seal; Deborah Thompson; Patrick Kelly; Anthony Renwick; Anna Elliott; Sarah Reid; Katarina Spanova; Rita Barfoot; Tasnim Chagtai; Hiran Jayatilake; Lesley McGuffog; Sandra Hanks; D Gareth Evans; Diana Eccles; Douglas F Easton; Michael R Stratton
Journal:  Nat Genet       Date:  2006-12-31       Impact factor: 38.330

8.  Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase.

Authors:  Helen E Bryant; Niklas Schultz; Huw D Thomas; Kayan M Parker; Dan Flower; Elena Lopez; Suzanne Kyle; Mark Meuth; Nicola J Curtin; Thomas Helleday
Journal:  Nature       Date:  2005-04-14       Impact factor: 69.504

9.  Genome-wide association study identifies novel breast cancer susceptibility loci.

Authors:  Douglas F Easton; Karen A Pooley; Alison M Dunning; Paul D P Pharoah; Deborah Thompson; Dennis G Ballinger; Jeffery P Struewing; Jonathan Morrison; Helen Field; Robert Luben; Nicholas Wareham; Shahana Ahmed; Catherine S Healey; Richard Bowman; Kerstin B Meyer; Christopher A Haiman; Laurence K Kolonel; Brian E Henderson; Loic Le Marchand; Paul Brennan; Suleeporn Sangrajrang; Valerie Gaborieau; Fabrice Odefrey; Chen-Yang Shen; Pei-Ei Wu; Hui-Chun Wang; Diana Eccles; D Gareth Evans; Julian Peto; Olivia Fletcher; Nichola Johnson; Sheila Seal; Michael R Stratton; Nazneen Rahman; Georgia Chenevix-Trench; Stig E Bojesen; Børge G Nordestgaard; Christen K Axelsson; Montserrat Garcia-Closas; Louise Brinton; Stephen Chanock; Jolanta Lissowska; Beata Peplonska; Heli Nevanlinna; Rainer Fagerholm; Hannaleena Eerola; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Sei-Hyun Ahn; David J Hunter; Susan E Hankinson; David G Cox; Per Hall; Sara Wedren; Jianjun Liu; Yen-Ling Low; Natalia Bogdanova; Peter Schürmann; Thilo Dörk; Rob A E M Tollenaar; Catharina E Jacobi; Peter Devilee; Jan G M Klijn; Alice J Sigurdson; Michele M Doody; Bruce H Alexander; Jinghui Zhang; Angela Cox; Ian W Brock; Gordon MacPherson; Malcolm W R Reed; Fergus J Couch; Ellen L Goode; Janet E Olson; Hanne Meijers-Heijboer; Ans van den Ouweland; André Uitterlinden; Fernando Rivadeneira; Roger L Milne; Gloria Ribas; Anna Gonzalez-Neira; Javier Benitez; John L Hopper; Margaret McCredie; Melissa Southey; Graham G Giles; Chris Schroen; Christina Justenhoven; Hiltrud Brauch; Ute Hamann; Yon-Dschun Ko; Amanda B Spurdle; Jonathan Beesley; Xiaoqing Chen; Arto Mannermaa; Veli-Matti Kosma; Vesa Kataja; Jaana Hartikainen; Nicholas E Day; David R Cox; Bruce A J Ponder
Journal:  Nature       Date:  2007-06-28       Impact factor: 49.962

10.  Prospective surveillance of women with a family history of breast cancer: auditing the risk threshold.

Authors:  E Anderson; J Berg; R Black; N Bradshaw; J Campbell; H Carnaghan; R Cetnarkyj; S Drummond; R Davidson; J Dunlop; A Fordyce; B Gibbons; D Goudie; H Gregory; S Holloway; M Longmuir; L McLeish; V Murday; Z Miedzybrodska; D Nicholson; P Pearson; M Porteous; M Reis; S Slater; K Smith; E Smyth; L Snadden; M Steel; D Stirling; C Watt; C Whyte; D Young
Journal:  Br J Cancer       Date:  2008-02-19       Impact factor: 7.640

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