Journal Article
. 2012 May;21(5).
doi: 10.1007/s10897-012-9506-x.

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

Sara Riordan 1 David F Rodriguez  Shannon Kieran  
Affiliations
  • PMID: 22610652
  •     32 References
  •     3 citations

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.

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
D Ford, D F Easton, +22 authors, M Zelada-Hedman.
Am J Hum Genet, 1998 Apr 29; 62(3). PMID: 9497246    Free PMC article.
Highly Cited.
Genetic susceptibility loci for breast cancer by estrogen receptor status.
Montserrat Garcia-Closas, Stephen Chanock.
Clin Cancer Res, 2008 Dec 18; 14(24). PMID: 19088016    Free PMC article.
Review.
Genes associated with breast cancer metastatic to bone.
Marcel Smid, Yixin Wang, +5 authors, John A Foekens.
J Clin Oncol, 2006 Apr 26; 24(15). PMID: 16636340
Highly Cited.
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
Shahana Ahmed, Gilles Thomas, +136 authors, Douglas F Easton.
Nat Genet, 2009 Mar 31; 41(5). PMID: 19330027    Free PMC article.
Highly Cited.
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.
Simon N Stacey, Andrei Manolescu, +53 authors, Kari Stefansson.
Nat Genet, 2008 Apr 29; 40(6). PMID: 18438407
Highly Cited.
Genome-wide association study identifies novel breast cancer susceptibility loci.
Douglas F Easton, Karen A Pooley, +102 authors, Bruce A J Ponder.
Nature, 2007 May 29; 447(7148). PMID: 17529967    Free PMC article.
Highly Cited.
Genetics and personal genomics for personalized breast cancer surgery: progress and challenges in research and clinical practice.
Dimosthenis Ziogas, Dimitrios H Roukos.
Ann Surg Oncol, 2009 Mar 27; 16(7). PMID: 19322611
Review.
Hereditary breast cancer: new genetic developments, new therapeutic avenues.
Philippe M Campeau, William D Foulkes, Marc D Tischkowitz.
Hum Genet, 2008 Jun 26; 124(1). PMID: 18575892
Review.
Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells.
Allison B Moffa, Stephen P Ethier.
J Cell Physiol, 2006 Nov 30; 210(3). PMID: 17133345
Performance of common genetic variants in breast-cancer risk models.
Sholom Wacholder, Patricia Hartge, +24 authors, David J Hunter.
N Engl J Med, 2010 Mar 20; 362(11). PMID: 20237344    Free PMC article.
Highly Cited.
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Antonis C Antoniou, Amanda B Spurdle, +90 authors, CIMBA.
Am J Hum Genet, 2008 Mar 22; 82(4). PMID: 18355772    Free PMC article.
Highly Cited.
Polygenes, risk prediction, and targeted prevention of breast cancer.
Paul D P Pharoah, Antonis C Antoniou, Douglas F Easton, Bruce A J Ponder.
N Engl J Med, 2008 Jun 27; 358(26). PMID: 18579814
Highly Cited.
Effect of direct-to-consumer genomewide profiling to assess disease risk.
Cinnamon S Bloss, Nicholas J Schork, Eric J Topol.
N Engl J Med, 2011 Jan 14; 364(6). PMID: 21226570    Free PMC article.
Highly Cited.
Increasing use of contralateral prophylactic mastectomy for breast cancer patients: a trend toward more aggressive surgical treatment.
Todd M Tuttle, Elizabeth B Habermann, +2 authors, Beth A Virnig.
J Clin Oncol, 2007 Oct 24; 25(33). PMID: 17954711
Highly Cited.
Randomized trials of breast-conserving therapy versus mastectomy for primary breast cancer: a pooled analysis of updated results.
Ismail Jatoi, Michael A Proschan.
Am J Clin Oncol, 2005 Jun 01; 28(3). PMID: 15923803
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
Gilles Thomas, Kevin B Jacobs, +45 authors, David J Hunter.
Nat Genet, 2009 Mar 31; 41(5). PMID: 19330030    Free PMC article.
Highly Cited.
American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer.
Lyndsay Harris, Herbert Fritsche, +7 authors, American Society of Clinical Oncology.
J Clin Oncol, 2007 Oct 24; 25(33). PMID: 17954709
Highly Cited. Review.
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.
Simon N Stacey, Andrei Manolescu, +50 authors, Kari Stefansson.
Nat Genet, 2007 May 29; 39(7). PMID: 17529974
Highly Cited.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antonis C Antoniou, Olga M Sinilnikova, +141 authors, CIMBA.
Hum Mol Genet, 2009 Aug 07; 18(22). PMID: 19656774    Free PMC article.
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.
Montserrat Garcia-Closas, Per Hall, +111 authors, Paul D Pharoah.
PLoS Genet, 2008 Apr 26; 4(4). PMID: 18437204    Free PMC article.
Highly Cited.
Validation studies on a model for breast cancer risk.
M H Gail, J Benichou.
J Natl Cancer Inst, 1994 Apr 20; 86(8). PMID: 8179704
Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer.
Soonmyung Paik, Gong Tang, +11 authors, Norman Wolmark.
J Clin Oncol, 2006 May 25; 24(23). PMID: 16720680
Highly Cited.
Presymptomatic risk assessment for chronic non-communicable diseases.
Badri Padhukasahasram, Eran Halperin, +5 authors, Dietrich A Stephan.
PLoS One, 2011 Jan 11; 5(12). PMID: 21217814    Free PMC article.
A common coding variant in CASP8 is associated with breast cancer risk.
Angela Cox, Alison M Dunning, +78 authors, Breast Cancer Association Consortium.
Nat Genet, 2007 Feb 13; 39(3). PMID: 17293864
Highly Cited.
Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium.
Breast Cancer Association Consortium.
J Natl Cancer Inst, 2006 Oct 05; 98(19). PMID: 17018785
Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci.
Gillian K Reeves, Ruth C Travis, +9 authors, Million Women Study Collaborators.
JAMA, 2010 Jul 29; 304(4). PMID: 20664043
Bone metastases from breast carcinoma: histopathological - radiological correlations and prognostic features.
J J James, A J Evans, +4 authors, J F R Robertson.
Br J Cancer, 2003 Aug 14; 89(4). PMID: 12915874    Free PMC article.
Resveratrol and estradiol rapidly activate MAPK signaling through estrogen receptors alpha and beta in endothelial cells.
Carolyn M Klinge, Kristy A Blankenship, +6 authors, Robert S Keynton.
J Biol Chem, 2004 Dec 24; 280(9). PMID: 15615701
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
Debbie Saslow, Carla Boetes, +13 authors, American Cancer Society Breast Cancer Advisory Group.
CA Cancer J Clin, 2007 Mar 30; 57(2). PMID: 17392385
Highly Cited.
Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women.
Timothy R Rebbeck, Angela DeMichele, +4 authors, Brian L Strom.
Carcinogenesis, 2008 Nov 26; 30(2). PMID: 19028704    Free PMC article.
Polygenic susceptibility to breast cancer and implications for prevention.
Paul D P Pharoah, Antonis Antoniou, +3 authors, Bruce A J Ponder.
Nat Genet, 2002 May 02; 31(1). PMID: 11984562
Highly Cited.
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
D Ford, D F Easton, +2 authors, D E Goldgar.
Lancet, 1994 Mar 19; 343(8899). PMID: 7907678
Highly Cited.
Genomic counseling: next generation counseling.
Rachel Mills, Susanne B Haga.
J Genet Couns, 2013 Sep 13; 23(4). PMID: 24026254    Free PMC article.
Personalized Medicine Through SNP Testing for Breast Cancer Risk: Clinical Implementation.
Rebecca Howe, Talya Miron-Shatz, +3 authors, Elissa M Ozanne.
J Genet Couns, 2014 Dec 19; 24(5). PMID: 25519004
Genetics of breast cancer: a topic in evolution.
S Shiovitz, L A Korde.
Ann Oncol, 2015 Jan 22; 26(7). PMID: 25605744    Free PMC article.
Highly Cited. Review.