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WHYWe believe in challenging the status quo to bring about positive change for young adults with cancer.
HOWThe way we will bring about positive change is by our persistent pursuit of research, targeted education, support and advocacy with young survivors engaged as our most essential partners.
WHATWe build diverse approaches to reach young adults and lead clinical research focused on their aggressive disease.
Vision, Mission and Operations
History- 2001, Support and education program initiated
- 2005, Research program implemented
- 2011, CDC funding for support & education programming
- Needs assessment completed
Outreach- ~1,400 survivors in St. Louis region
- ~2,700 survivors throughout the United States engaged in our research program
Regional program with national outreach
Young Women’s Breast Cancer Program
Local Needs Assessment - Findings
• The majority of women currently engaged in our program have completed their primary cancer treatment.
• Minority young survivors and women with limited financial resources are not adequately represented.
• Young women wish to connect with other young survivors for peer support and information.
• Targeted support programming for women with metastatic breast cancer does not currently exist in St. Louis region.
• Young women desire targeted information that is easy to manage.
• Young survivors stated it was difficult to find targeted programs.
• There is a lack of support and education programming for young adults with cancer in St. Louis region.
YWBCP: Support programming
Cancer Care Continuum
End-of-lifePost treatment Survivorship
TreatmentDiagnosis
Risk Assessment
Prevention
DetectionCancer
recurrence / metastatic
disease
Peer Network
Monthly support / network group
YWBCP: Support programming
Cancer Care Continuum
End-of-lifePost treatment Survivorship
TreatmentDiagnosis
Risk Assessment
Prevention
DetectionCancer
recurrence / metastatic
disease
Monthly support / network group
Peer Network
Coach Program
Psychosocial support program
YWBCP: Educational activities
Cancer Care Continuum
End-of-lifePost treatment Survivorship
TreatmentDiagnosis
Risk Assessment
Prevention
DetectionCancer
recurrence / metastatic
disease
Guidance journal
Survivor Magazine
Educational Symposium
YWBCP: Educational activities
Cancer Care Continuum
End-of-lifePost treatment Survivorship
TreatmentDiagnosis
Risk Assessment
Prevention
DetectionCancer
recurrence / metastatic
disease
Together Magazine
Guidance journal
Educational Symposium
Genetics Navigation Tool
Survivorship Program
YWBCP: A different approach
Center of Creative ArtsEnriching lives and building community through the arts
Young survivor
art program
Barnes-Jewish Hospital
YWBCP: Research
Initial questions1. What are the as yet unidentified genetic factors that contribute to risk for
breast cancer, and in particular breast cancer at a young age? laboratory (molecular genetic) studies
2. How common is familial breast cancer in early-onset disease, and among those women with a positive family history, how many have BRCA1 or BRCA2 gene mutation?
family studies
3. How do we communicate clinical whole genome sequencing results to individuals and families?
communication studies
YWBCP: ResearchCriteria and study requirements- Diagnosed with invasive breast cancer < 40- Consent, blood specimen, medical records, and family cancer history
Enrollment status- 2,701 young survivors have asked to participate- 1,792 (66%) young survivors enrolled
- 37 years – average age at diagnosis- 1,607 parents, sisters enrolled
0100200300400500600700800
2005 2006 2007 2008 2009 2010 2011 2012
PROBANDS
YEAR
Number of probands enrolled by year
Love / Avon Army of Womenpartnership
YWBCP: Research
Racial background of young survivors
Caucasian (91%)
African-American (3.5%)
Hispanic / Latino (2.4%)
Asian (1.0%)
Other (2.1%)
Age at consent Number %< 30 95 5.330 - 34 283 15.835 - 40 552 30.840 - 44 460 25.745 - 49 160 8.950 - 60 159 8.960 - 70 73 4.1 13.470+ 8 0.4
Copy Number Variants Exome Sequencing
120 BRCA1 and BRCA2 negative probands and parents
(trios studied in Aim 1)
120 additional probands and parents
CNV technical validationNimbleGen custom 135K arrayQ-PCR
Refining CNV boundariesPCR–based analysis of de novo deletions
CNV candidates validated in addition to early-onset breast cancer cases (biologic validation)NibleGen custom 135K array
Data analysisdescriptive summary of CNVcompare total CNV “load” in cases and parentsdefine minimum CNV regionsdetailed annotation of all genes, miRNA, noncoding
RNAs in de novo CNV regions
CNV regions prioritized for further analysis
Goodfellow, Graubert, Ivanovich; Avon Foundation, NIH R01
€
120 BRCA1 and BRCA2 negative probands and parents
CNV discoveryNibleGen HD 2.1 array
Prioritize high confidence CNVs for follow-up studies• de novo variants• Recurrent “rare” variants involving coding sequences• CNVs that include genes known to be important in breast
biology/tumorigenesis
384 probands, BRCA1,2 negative and strong breast
cancer family history
Goodfellow, Mardis, Borecki, IvanovichWUSM Genome Center funding
YWBCP: Research – Molecular studies
YWBCP: Research – Family studies
Heritability
04-1009-120-001
Breast CA dx. 36
Adopted out of family
04-1009-374-001
2
65
Breast CAdx. 35
14
55 6065
22 2
38 4143 44 30, 35
15, 18 11, 13 18 15
67Prostate
CA dx. 67
67
2
55
35, 38 454340s 40s
61
d. 65Lung CAsmoker
d. 45Heart attack
d. 87 Heart
disease
d. 89Old age
04-1009-293-001
65
39Breast CA dx. 37
48
2
44 42 42
13, 10 12 15, 17
67Prostate
CA dx. 67
d. 77 Old ageHysterectomy dx. mid 30s
d. 67GI CA dx. 63
Breast Ca dx. 47Ovarian CA
dx. 70
Prostate CAdx. 60
Colon CA dx. 75
9
2
8, 13
2
8, 13
2
Only child
46 38, 45
2
74
04-1009-019-001
d. 85
d. Lung CA
d. Old Age
d. Lung CA
79 Basal Cell
Bladder CA
d. 45 Breast CA
Breast CA dx. 39
4
76 Breast CA dx. 46
Unilateral
32 2 21
1 2 3 1
45 36
11Cystic
Fibrosis
2.5Cystic
Fibrosis
9
Key Male Female Cancer DeceasedKey Male Female Cancer Deceased
0=Noninformative 1=Low risk 2=Elevated risk 3=Moderate risk
Figure 1: Representative pedigrees of family risk classification scheme
Male Female Cancer Deceased
Goodfellow, Ivanovich, departmental funding
YWBCP: Research – Communication studiesCommunicating sequencing results-NIH R01 funding anticipated to begin in June, 2012- Kaphingst, Dressler, Goodman, Ivanovich, Goodfellow, Biesecker
TECHNOLOGY
Rare, high penetrant alleles
Provider & public genetics
education
Common, low penetrant alleles
…Outcome &
communication research…
Clinical validation
studies…
Funding for education behavioral research
Information Access
…Cross discipline
training …
The Young Women’s Breast Cancer Program
Kim Selig, MSW -- Program [email protected]
Jennifer Ivanovich, MS -- Program [email protected]
Paul Goodfellow, PhD – Research [email protected]
Washington University School of MedicineBox 8100; Siteman Cancer Center660 S. Euclid AveSt. Louis, MO 63110