Hereditary Breast and Ovarian Cancer: Is it time for Population Screening for BRCA Mutations? - September 9, 2015

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Breast & Ovarian Cancer

Hereditary Breast and Ovarian Cancer: Is it time for Population Screening for BRCA Mutations? - September 9, 2015

CDC Info

• Breast cancer awareness
• CDC blog post:Using genomics in precision prevention of breast cancer
• CDC Medscape Expert Commentary:Genetics and BRCA in Primary Care
• Does breast or ovarian cancer run in your family?
• Public health genomics implementation tool kit for health departments - check out BRCA section
• How can we use genetic testing for stratified screening for common diseases such as breast cancer?
• CDC Know:BRCA Tool
• Knowing BRCA changed my life

Genetic testing all women for breast cancer might not be worth the cost,Science Daily, September 3, 2015

Cost-effectiveness of universal BRCA1/2 screening - evidence-based decision making 
EF Long et al. JAMA Oncology, September 3, 2015

A never-ending genetic quest. Mary-Claire King's Pioneering gene work, from breast cancer to human rights, New York Times, Feb 9

Precision medicine meets public health: population screening for BRCA1 and BRCA2.
Levy-Lahad Ephrat et al. J. Natl. Cancer Inst. 2015 Jan (1) 420

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
Gabai-Kapara Efrat et al. Proc. Natl. Acad. Sci. U.S.A. 2014 Sep 30. (39) 14205-10

Lasker Award winner Mary-Claire King.
King Mary-Claire et al. Nat. Med. 2014 Oct (10) 1124-5

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.
King Mary-Claire et al. JAMA 2014 Sep 17. (11) 1091-2

Cost-effectiveness of population screening for BRCA mutations in Ashkenazi Jewish women compared with family history-based testing.
Manchanda Ranjit et al. J. Natl. Cancer Inst. 2015 Jan (1) 380

Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.
Manchanda Ranjit et al. J. Natl. Cancer Inst. 2015 Jan (1) 379

Breast Cancer Gene Expression Profiling in Practice - September 8, 2015

Oncotype DX in bilateral synchronous primary invasive breast cancer.
Karsten M et al. Ann. Surg. Oncol. 2015 Sep 4.

Association between use of the 21-gene recurrence score assay and receipt of chemotherapy among medicare beneficiaries with early-stage breast cancer, 2005-2009
Dinan MA et al, JAMA Oncology, August 27, 2015

Precision medicine in breast cancer care - an early glimpse of impact 
Kurian AW, JAMA Oncology, August 27, 2015

Is there a role for Oncotype Dx testing in invasive lobular carcinoma?
Conlon N et al. Breast J 2015 Aug 14.

Decision-making impact on adjuvant chemotherapy allocation in early node-negative breast cancer with a 21-gene assay: systematic review and meta-analysis.
Augustovski F et al. Breast Cancer Res. Treat. 2015 Jul 1.

Prospective clinical utility study of the use of the 21-gene assay in adjuvant clinical decision making in women with estrogen receptor-positive early invasive breast cancer: Results from the SWITCH study.
Gligorov J et al. Oncologist 2015 Jun 25.

Decision-making impact on adjuvant chemotherapy allocation in early node-negative breast cancer with a 21-gene assay: systematic review and meta-analysis.
Augustovski F et al. Breast Cancer Res. Treat. 2015 Jul 1.

A population-based validation study of the DCIS Score predicting recurrence risk in individuals treated by breast-conserving surgery alone.
Rakovitch E et al. Breast Cancer Res. Treat. 2015 Jun 29.

Correlation of histopathologic features of ductal carcinoma in situ of the breast with the Oncotype DX DCIS score.
Knopfelmacher A et al. Mod. Pathol. 2015 Jun 26.

[Cost-effectiveness of the 21 gene assay in patients with node-positive breast cancer].
Fischer L et al. Gesundheitswesen 2015 Jun 24.

Menopausal status does not predict Oncotype DX recurrence score.
Carr DN et al. J. Surg. Res. 2015 Jun 12.

Using proliferative markers and Oncotype DX in therapeutic decision-making for breast cancer: the B.C. experience.
Baxter E et al. Curr Oncol 2015 Jun (3) 192-8

Economic impact of gene expression profiling in patients with early-stage breast cancer in France.
Katz G et al. PLoS ONE 2015 (6) e0128880

A validated model for identifying patients unlikely to benefit from the 21-gene recurrence score assay.
Gage MM et al. Clin. Breast Cancer 2015 Apr 23.

The impact of genomic testing on the recommendation for radiation therapy in patients with ductal carcinoma in situ: A prospective clinical utility assessment of the 12-gene DCIS score™ result.
Alvarado M et al. J Surg Oncol 2015 Jun (8) 935-40

Indications for prognostic gene expression profiling in early breast cancer.
Cobain EF et al. Curr Treat Options Oncol 2015 May (5) 23

Long-term cost-effectiveness of Oncotype DX(®) versus current clinical practice from a Dutch cost perspective.
Kip M et al. J Comp Eff Res 2015 Apr 15. 1-13

Breast Cancer Gene Panels: Opportunities and Challenges - August 24, 2015

CDC Information: Breast cancer awareness

Breast cancer genetic tests, beyond BRCA, can help personalize treatment plan, by K Doyle, Genetic Literacy Project, August 2015

Testing for more breast cancer genes offers useful information, Reuters, Aug 14

Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment
Desmond A et al. JAMA Oncology, August 2015

Usefulness of multigene testing - catching the train that's left the station
Swisher EM, JAMA Oncology, August 2015

A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients.
Lincoln SE et al. J Mol Diagn 2015 Jul 21.

Gene-panel sequencing and the prediction of breast-cancer risk
Easton DF et al. NEJM, May 27, 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Couch FJ et al. J. Clin. Oncol. 2015 Feb 1. (4) 304-11

Testing for hereditary breast cancer: panel or targeted testing? Experience from a clinical cancer genetics practice.
Doherty Jr et al. J Genet Couns 2014 Dec 5.

Beyond BRCA1 and BRCA2.
King-Spohn K et al. Curr Probl Cancer 2014 Nov-Dec (6) 235-48

Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.
Kurian AW et al. Curr. Opin. Obstet. Gynecol. 2015 Feb (1) 23-33

Hereditary breast cancer syndromes and genetic testing.
Rich TA et al. J Surg Oncol 2015 Jan (1) 66-80

Hereditary breast cancer: an update on risk assessment and genetic testing in 2015.
Stuckey AR et al. Am. J. Obstet. Gynecol. 2015 Mar 3.

Celebrities: Genetics and Breast Cancer - August 10, 2015

The Angelina Effect and the mixed blessing of celebrities and risk awareness, by H Bastian, PLOS Blogs, August 9, 2015

Assessing breast cancer risk: Beyond the Angelina Effect, by R Lewis, PLOS Blog, April 2015

Genetic counselors expect resurgence of 'Jolie effect'
But misinterpreted results of tests for cancer risk can result in unnecessary surgery. Erika Check Hayden, Nature News, March 30, 2015

Learning from Angelina Jolie's genetic testing for our own health, by Elizabeth Cohen, CNN, Mar 25

Diary of a surgery, by Angelina Jolie Pitt, New York Times, Mar 24

'Jolie effect': Could her candor help save lives? By Maria Puente, USA Today, Mar 24

'Angelina Jolie effect': BRCA testing doubles, by Zosia Chustecka, Medscape, Sept 3

Cancer information seeking in the digital age: Effects of Angelina Jolie's prophylactic mastectomy announcement 
Noar SM, et al. Med Decis Making 2014 Oct

Celebrity disclosures and information seeking: the case of Angelina Jolie 
Juthe RH, et al. Genet Med 2014 Oct

The Angelina effect: immediate reach, grasp, and impact of going public. 
Borzekowski DL et al. Genet Med. 2014 Jul;16(7):516-21.

Angelina Jolie's faulty gene: newspaper coverage of a celebrity's preventive bilateral mastectomy in Canada, the United States, and the United Kingdom. 
Kamenova K et al. Genet Med. 2014 Jul;16(7):522-8.

Breast Cancer in Young Women: Recent Insights - May 27, 2015

Family history and outcome of young patients with breast cancer in the UK (POSH study).
Eccles BK et al. Br J Surg 2015 May 20.

Gene expression in "young adult type" breast cancer: a retrospective analysis.
Johnson RH et al. Oncotarget 2015 May 9.

Breast cancer in very young women: Clinicopathological study of 149 patients ≤25 years old.
de Deus Moura R et al. Breast 2015 May 19.

The expression of CXCL13 and its relation to unfavorable clinical characteristics in young breast cancer.
Chen L et al. J Transl Med 2015 May 20. (1) 168

Experiences of women who underwent predictive BRCA 1/2 mutation testing before the age of 30.
Brunstrom K et al. J Genet Couns 2015 May 19.

Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer.
Muendlein A et al. J. Cancer Res. Clin. Oncol. 2015 May 15.

High prevalence of the BIM deletion polymorphism in young female breast cancer in an East Asian country.
Lin Ching-Hung et al. PLoS ONE 2015 (4) e0124908

Increasing disparities in breast cancer mortality from 1979 to 2010 for US black women aged 20 to 49 years.
McCarthy AM et al. Am J Public Health 2015 Apr 23. e1-e3

Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.
Kaphingst KA et al. Clin. Genet. 2015 Apr 13

.BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.
El Saghir NS et al. Oncologist 2015 Apr (4) 357-64

Factors influencing breast cancer screening and risk assessment among young African American women: An integrative review of the literature.
Jones TP et al. J Am Assoc Nurse Pract 2015 Mar 3.

Breast cancer in young women: Share your story - May 4, 2015

CDC information: Share your story. Empower and educate young women
About 11% of new breast cancer cases in the United States affect women under the age of 45, but many young women may not realize they are at risk for this disease.

CDC Know:BRCA Tool
Some women carry certain genetic changes in their BRCA genes that increase their risks for getting breast, ovarian, and other kinds of cancers at a young age

Knowing BRCA changed my life, by Debbie Wasserman Schultz, CDC Blog Post 2014

Why I am having a double mastectomy
A 34-year-old mother of two young daughters explains how she reached her difficult decision to have the "Angelina Jolie" procedure, The Guardian, May 2, 2015

CDC information: Does breast or ovarian cancer run in your family?

Webinar: Hereditary breast and ovarian cancer in public health, Genetic Alliance, 2014

CDC Tier 1 Genomic Applications Implementation Toolkit for Public Health Departments
Detailed Information on Hereditary Breast and Ovarian Cancer (HBOC)

CDC Podcast: Genetics and BRCA in primary care, Medscape, 2014

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck TR et al. JAMA 2015 Apr 7. (13) 1347-61

Risk of breast and ovarian cancers may differ by BRCA1/2 mutation type, ASCO Post, Apr 8

Ovary removal is linked to lower breast cancer mortality in BRCA1 carriers, BMJ News, Apr 24

Effect of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers
Metcalfe K et al. JAMA Oncology, April 23, 2015

Breast Cancer: Genomics in Prediction and Stratified Screening - April 23, 2014

New CDC blog post: Using genomics in precision prevention of breast cancer

Hereditary breast and ovarian cancers: moving toward more precise prevention, NIH Director Blog Post, Apr 14

Prediction of breast cancer risk based on profiling with common genetic variants.
Mavaddat N et al. J. Natl. Cancer Inst. 2015 May (5)

Twenty-five years of breast cancer risk models and their applications.
Gail MH et al. J. Natl. Cancer Inst. 2015 May (5)

Breast cancer prevention in the era of precision medicine.
Narod SA et al. J. Natl. Cancer Inst. 2015 May (5)

The contributions of breast density and common genetic variation to breast cancer risk.
Vachon CM et al. J. Natl. Cancer Inst. 2015 May (5)

Update on breast cancer risk prediction and prevention.
Sestak I et al. Curr. Opin. Obstet. Gynecol. 2015 Feb (1) 92-7

The role of genome sequencing in personalized breast cancer prevention. 
Weiva Sieh, et al. Cancer Epidemiology Biomarkers and Prevention, October 23, 2014

Cancer genomics: Using big data to advance breast cancer risk prediction, by Srivani Ravoori, AACR blog post, Oct 23

Genomic sequencing more efficient in predicting breast cancer risk than previously thought,AACR, Oct 23

CDC blog post: How can we use genetic testing for stratified screening for common diseases such as breast cancer?

Breast Cancer Gene Expression Profiling in Practice - April 13, 2015

Cost-effectiveness of the 21-gene breast cancer assay in Mexico.
Bargalló-Rocha JE et al. Adv Ther 2015 Mar 5.

Initial trends in the use of the 21-gene recurrence score assay for patients with breast cancer in the Medicare population, 2005-2009
Dinan MA, et al. JAMA Oncology, March 2015

The value of personalizing medicine: Medical oncologists? Views on gene expression profiling in breast cancer treatment
Bombard Y, et al. The Oncologist, March 2015

The 21-gene recurrence score complements IBTR! Estimates in early-stage, hormone receptor-positive, HER2-normal, lymph node-negative breast cancer.
Thaker NG, et al. Springerplus 2015 36

Oncotype DX in women and men with ER-positive, HER2-negative early stage breast cancer who are lymph node negative: A review of clinical effectiveness and guidelines
Ottawa (ON): Canadian Agency for Drugs and Technologies in Health 2014 Feb 20.

Clinical utility of gene-expression profiling in women with early breast cancer: an overview of systematic reviews.
Marrone M, et al. Genet. Med. 2014 Dec 4.

[uPA/PAI-1, Oncotype DX, MammaPrint(®). Prognosis and predictive values for clinical utility in breast cancer management].
Bellocq JP, et al. Ann Pathol 2014 Oct (5) 349-51

A study of the impact of the 21-gene breast cancer assay on the use of adjuvant chemotherapy in women with breast cancer in a Mexican public hospital.
Bargallo JE, et al. J Surg Oncol 2015 Feb (2) 203-7

Can mammographic and sonographic imaging features predict the Oncotype DX? recurrence score in T1 and T2, hormone receptor positive, HER2 negative and axillary lymph node negative breast cancers?
Yepes MM, et al. Breast Cancer Res. Treat. 2014 Nov (1) 117-23

The impact of Oncotype DX testing on breast cancer management and chemotherapy prescribing patterns in a tertiary referral centre.
McVeigh TP, et al. Eur. J. Cancer 2014 Nov (16) 2763-70

Genomic profile of breast cancer: cost-effectiveness analysis from the Spanish National Healthcare System perspective.
Seguí MÁ et al. Expert Rev Pharmacoecon Outcomes Res 2014 Dec (6) 889-99

Societal cost-effectiveness analysis of the 21-gene assay in estrogen-receptor-positive, lymph-node-negative early-stage breast cancer in Japan.
Yamauchi H, et al. BMC Health Serv Res 2014 372

Factors influencing Oncotype DX use in the management of early breast cancer: a single centre experience.
Zhu X, et al. Eur. J. Cancer 2014 Oct (15) 2544-9

Diagnostic tests based on gene expression profile in breast cancer: from background to clinical use.
Zanotti L, et al. Tumour Biol. 2014 Sep (9) 8461-70

Breast Cancer Genomics: Where Are We Going? March 31, 2015

CDC information: New analysis of breast cancer subtypes could lead to better risk stratification
Annual report to the Nation shows that mortality and incidence for most cancers continue to decline

Annual report to the Nation on the status of cancer, 1975-2011, featuring incidence of breast cancer subtypes by race/ethnicity, poverty, and state 
Kohler B et al. JNCI, March 30, 2015

Breast cancer genomics from microarrays to massively parallel sequencing: paradigms and new insights.
Ng CK et al. J. Natl. Cancer Inst. 2015 (5)

Genomic profiling of breast cancers.
Curtis C et al. Curr. Opin. Obstet. Gynecol. 2015 Feb (1) 34-9

Intrinsic cancer subtypes-next steps into personalized medicine.
Santos C et al. Cell Oncol (Dordr) 2015 Jan 14.

New concepts in breast cancer genomics and genetics.
Goncalves R et al. Breast Cancer Res. 2014 (5) 460

Application of metabolomics in drug resistant breast cancer research.
Shajahan-Haq AN et al. Metabolites 2015 (1) 100-18

Research progress in applying proteomics technology to explore early diagnosis biomarkers of breast cancer, lung cancer and ovarian cancer.
Luo L et al. Asian Pac. J. Cancer Prev. 2014 (20) 8529-38

How many etiological subtypes of breast cancer: two, three, four, or more?
Anderson WF et al. J. Natl. Cancer Inst. 2014 Aug (8)

Computational prognostic indicators for breast cancer.
Yang X et al. Cancer Manag Res 2014 301-12

Genomic analysis of breast cancer heralds a changing treatment paradigm.
Ellis M et al. J Natl Compr Canc Netw 2014 May (5 Suppl) 750-2

Triple-negative breast cancer: bridging the gap from cancer genomics to predictive biomarkers.
Davis SL et al. Ther Adv Med Oncol 2014 May (3) 88-100

Principles and methods of integrative genomic analyses in cancer.
Kristensen VN et al. Nat. Rev. Cancer 2014 May (5) 299-313

Implications of functional proteomics in breast cancer.
Chae YK et al. Oncologist 2014 Apr (4) 328-35

Genetic and epigenetic aspects of breast cancer progression and therapy.
Byler S et al. Anticancer Res. 2014 Mar (3) 1071-7

The omics of triple-negative breast cancers.
Xu H et al. Clin. Chem. 2014 Jan (1) 122-33

Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value.
Stirzaker C et al. Nat Commun 2015 5899

Breast cancer genomics in the deep sequencing era.
Pillar N et al. Isr. Med. Assoc. J. 2014 Dec (12) 783-4

The Sweden Cancerome Analysis Network - Breast (SCAN-B) Initiative: a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine.
Saal LH et al. Genome Med 2015 (1) 20

Ovarian Cancer: Recent Genomic Insights - January 20, 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer 
Karoline B Kuchenbaecker et al. Nature Genetics, January 12, 2015

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.
Candido Dos Reis FJ, Clin Cancer Res. 2014 Nov 14

Evidence for a time-dependent association between FOLR1 expression and survival from ovarian carcinoma: implications for clinical testing. An ovarian tumour tissue analysis consortium study.
Köbel M, et al. Br J Cancer. 2014 Dec 9;111(12):2297-307

New strategies in ovarian cancer: translating the molecular complexity of ovarian cancer into treatment advances.
Liu J, et al. Clin Cancer Res. 2014 Oct 15;20(20):5150-6

Genomic classification of serous ovarian cancer with adjacent borderline differentiates RAS pathway and TP53-mutant tumors and identifies NRAS as an oncogenic driver.
Emmanuel C, et al. Clin Cancer Res. 2014 Dec 15;20(24):6618-30.

Knowledge-driven genomic interactions: an application in ovarian cancer.
Kim D, Li R, et al. BioData Min. 2014 Sep 9;7:20

Ovarian cancer biomarkers: current state and future implications from high-throughput technologies.
Leung F, et al. Adv Clin Chem. 2014;66:25-77.

BRCA Testing in Action: Personal Stories - December 30, 2014

Feature: Peering into my genome, by Jennifer Couzin-Frankel, Science Magazine, Dec 4

CDC blog post: Knowing BRCA changed my life, Debbie Wasserman Schultz (June, 2014)

The REAL story of Mary-Claire King, by andrea, Brave Bosom Blog Post, Nov 20

Public Health Genomics in Action: Hereditary Breast and Ovarian Cancer - December 4, 2014

Hereditary breast and ovarian cancer in public health, Genetic Alliance, webinar, Nov 21

CDC Know:BRCA Tool

Recent insights

Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: A randomized controlled trial. 
Ranjit Manchanda, et al. JNCI, January, 2015

'Screen more' for cancer risk genes,  by James Gallagher, BBC, Nov 30

Breast and Ovarian Cancer Genetics: Clinical and Public Health Approaches - October 16, 2014

New CDC podcast: CDC Medscape Expert Commentary:Genetics and BRCA in Primary Care. Katherine Kolor, October 13, 2014

CDC awards grant to FORCE for breast cancer in young women,  [PDF 428.18 KB] October 10, 2014

CDC information: Does breast or ovarian cancer run in your family?

CDC BRCA assessment tool for women: The Know:BRCA Assessment can help you assess your risk of having a BRCA mutation. Learning your risk can help you and your doctor make important decisions for your health

CDC BRCA assessment tool for clinicians: Help women Know:BRCA

Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: Recommendations from the U.S. Preventive Services Task Force 
Ann Intern Med. 2014;160(4):I-16. doi:10.7326/P14-9008 

CDC Public health genomics implementation tool kit for health departments- check out BRCA section