Literature DB >> 22610652

Personal genomic testing as part of the complete breast cancer risk assessment: a case report.

Sara Riordan1, David F Rodriguez, Shannon Kieran.   

Abstract

Patient access and utilization of personal genomic testing is becoming increasingly common. We present a case of a patient's personal genomic screening results leading to early detection of infiltrating breast ductal cell carcinoma via MRI scan. This case exemplifies the successful integration of personal genomic testing into the primary care setting, with the guidance and support of genetic counseling services. We discuss the scientific basis of the patient's genome scan results and risk assessment, and how this informed her decision-making and subsequent screening. We also expound upon the role of personal genomic testing as compared to other screening tests in the complete breast cancer risk assessment.

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Year:  2012        PMID: 22610652     DOI: 10.1007/s10897-012-9506-x

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  32 in total

1.  Genes associated with breast cancer metastatic to bone.

Authors:  Marcel Smid; Yixin Wang; Jan G M Klijn; Anieta M Sieuwerts; Yi Zhang; David Atkins; John W M Martens; John A Foekens
Journal:  J Clin Oncol       Date:  2006-04-24       Impact factor: 44.544

2.  Performance of common genetic variants in breast-cancer risk models.

Authors:  Sholom Wacholder; Patricia Hartge; Ross Prentice; Montserrat Garcia-Closas; Heather Spencer Feigelson; W Ryan Diver; Michael J Thun; David G Cox; Susan E Hankinson; Peter Kraft; Bernard Rosner; Christine D Berg; Louise A Brinton; Jolanta Lissowska; Mark E Sherman; Rowan Chlebowski; Charles Kooperberg; Rebecca D Jackson; Dennis W Buckman; Peter Hui; Ruth Pfeiffer; Kevin B Jacobs; Gilles D Thomas; Robert N Hoover; Mitchell H Gail; Stephen J Chanock; David J Hunter
Journal:  N Engl J Med       Date:  2010-03-18       Impact factor: 91.245

Review 3.  Genetic susceptibility loci for breast cancer by estrogen receptor status.

Authors:  Montserrat Garcia-Closas; Stephen Chanock
Journal:  Clin Cancer Res       Date:  2008-12-15       Impact factor: 12.531

4.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

Authors:  D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

5.  Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells.

Authors:  Allison B Moffa; Stephen P Ethier
Journal:  J Cell Physiol       Date:  2007-03       Impact factor: 6.384

Review 6.  Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Authors:  Philippe M Campeau; William D Foulkes; Marc D Tischkowitz
Journal:  Hum Genet       Date:  2008-06-25       Impact factor: 4.132

Review 7.  Genetics and personal genomics for personalized breast cancer surgery: progress and challenges in research and clinical practice.

Authors:  Dimosthenis Ziogas; Dimitrios H Roukos
Journal:  Ann Surg Oncol       Date:  2009-03-26       Impact factor: 5.344

8.  Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.

Authors:  Simon N Stacey; Andrei Manolescu; Patrick Sulem; Steinunn Thorlacius; Sigurjon A Gudjonsson; Gudbjörn F Jonsson; Margret Jakobsdottir; Jon T Bergthorsson; Julius Gudmundsson; Katja K Aben; Luc J Strobbe; Dorine W Swinkels; K C Anton van Engelenburg; Brian E Henderson; Laurence N Kolonel; Loic Le Marchand; Esther Millastre; Raquel Andres; Berta Saez; Julio Lambea; Javier Godino; Eduardo Polo; Alejandro Tres; Simone Picelli; Johanna Rantala; Sara Margolin; Thorvaldur Jonsson; Helgi Sigurdsson; Thora Jonsdottir; Jon Hrafnkelsson; Jakob Johannsson; Thorarinn Sveinsson; Gardar Myrdal; Hlynur Niels Grimsson; Steinunn G Sveinsdottir; Kristin Alexiusdottir; Jona Saemundsdottir; Asgeir Sigurdsson; Jelena Kostic; Larus Gudmundsson; Kristleifur Kristjansson; Gisli Masson; James D Fackenthal; Clement Adebamowo; Temidayo Ogundiran; Olufunmilayo I Olopade; Christopher A Haiman; Annika Lindblom; Jose I Mayordomo; Lambertus A Kiemeney; Jeffrey R Gulcher; Thorunn Rafnar; Unnur Thorsteinsdottir; Oskar T Johannsson; Augustine Kong; Kari Stefansson
Journal:  Nat Genet       Date:  2008-04-27       Impact factor: 38.330

9.  Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

Authors:  Shahana Ahmed; Gilles Thomas; Maya Ghoussaini; Catherine S Healey; Manjeet K Humphreys; Radka Platte; Jonathan Morrison; Melanie Maranian; Karen A Pooley; Robert Luben; Diana Eccles; D Gareth Evans; Olivia Fletcher; Nichola Johnson; Isabel dos Santos Silva; Julian Peto; Michael R Stratton; Nazneen Rahman; Kevin Jacobs; Ross Prentice; Garnet L Anderson; Aleksandar Rajkovic; J David Curb; Regina G Ziegler; Christine D Berg; Saundra S Buys; Catherine A McCarty; Heather Spencer Feigelson; Eugenia E Calle; Michael J Thun; W Ryan Diver; Stig Bojesen; Børge G Nordestgaard; Henrik Flyger; Thilo Dörk; Peter Schürmann; Peter Hillemanns; Johann H Karstens; Natalia V Bogdanova; Natalia N Antonenkova; Iosif V Zalutsky; Marina Bermisheva; Sardana Fedorova; Elza Khusnutdinova; Daehee Kang; Keun-Young Yoo; Dong Young Noh; Sei-Hyun Ahn; Peter Devilee; Christi J van Asperen; R A E M Tollenaar; Caroline Seynaeve; Montserrat Garcia-Closas; Jolanta Lissowska; Louise Brinton; Beata Peplonska; Heli Nevanlinna; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; John L Hopper; Melissa C Southey; Letitia Smith; Amanda B Spurdle; Marjanka K Schmidt; Annegien Broeks; Richard R van Hien; Sten Cornelissen; Roger L Milne; Gloria Ribas; Anna González-Neira; Javier Benitez; Rita K Schmutzler; Barbara Burwinkel; Claus R Bartram; Alfons Meindl; Hiltrud Brauch; Christina Justenhoven; Ute Hamann; Jenny Chang-Claude; Rebecca Hein; Shan Wang-Gohrke; Annika Lindblom; Sara Margolin; Arto Mannermaa; Veli-Matti Kosma; Vesa Kataja; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Graham G Giles; Gianluca Severi; Laura Baglietto; Dallas R English; Susan E Hankinson; David G Cox; Peter Kraft; Lars J Vatten; Kristian Hveem; Merethe Kumle; Alice Sigurdson; Michele Doody; Parveen Bhatti; Bruce H Alexander; Maartje J Hooning; Ans M W van den Ouweland; Rogier A Oldenburg; Mieke Schutte; Per Hall; Kamila Czene; Jianjun Liu; Yuqing Li; Angela Cox; Graeme Elliott; Ian Brock; Malcolm W R Reed; Chen-Yang Shen; Jyh-Cherng Yu; Giu-Cheng Hsu; Shou-Tung Chen; Hoda Anton-Culver; Argyrios Ziogas; Irene L Andrulis; Julia A Knight; Jonathan Beesley; Ellen L Goode; Fergus Couch; Georgia Chenevix-Trench; Robert N Hoover; Bruce A J Ponder; David J Hunter; Paul D P Pharoah; Alison M Dunning; Stephen J Chanock; Douglas F Easton
Journal:  Nat Genet       Date:  2009-03-29       Impact factor: 38.330

10.  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

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  3 in total

1.  Genomic counseling: next generation counseling.

Authors:  Rachel Mills; Susanne B Haga
Journal:  J Genet Couns       Date:  2013-09-12       Impact factor: 2.537

2.  Personalized Medicine Through SNP Testing for Breast Cancer Risk: Clinical Implementation.

Authors:  Rebecca Howe; Talya Miron-Shatz; Yaniv Hanoch; Zehra B Omer; Cristina O'Donoghue; Elissa M Ozanne
Journal:  J Genet Couns       Date:  2014-12-18       Impact factor: 2.537

Review 3.  Genetics of breast cancer: a topic in evolution.

Authors:  S Shiovitz; L A Korde
Journal:  Ann Oncol       Date:  2015-01-20       Impact factor: 32.976

  3 in total

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