scholarly journals Risk Information Exposure and Direct-to-Consumer Genetic Testing for BRCA Mutations among Women with a Personal or Family History of Breast or Ovarian Cancer

2009 ◽  
Vol 18 (4) ◽  
pp. 1303-1311 ◽  
Author(s):  
Stacy W. Gray ◽  
Cristin O'Grady ◽  
Lauren Karp ◽  
Daniel Smith ◽  
J. Sanford Schwartz ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Risk Information ◽  
Brca Mutations ◽  
Direct To Consumer ◽  
Information Exposure ◽  
History Of

Genetic testing in young women with breast cancer: Results from a web-based survey

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21093-21093
Author(s):  
J. A. Shin ◽  
S. Gelber ◽  
J. Garber ◽  
R. Rosenberg ◽  
M. Przypyszny ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Young Women ◽  
College Education ◽  
Web Based ◽  
Increased Risk ◽  
History Of

21093 Background: Young women with breast cancer have an increased risk of harboring a BRCA1/2 mutation. The frequency of genetic testing in this population is not well described. We evaluated the reported frequency and factors associated with genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an international advocacy group for young women with breast cancer. Methods: Items regarding family history and genetic testing were included in a large web-based survey addressing quality of life and fertility issues for young women with breast cancer. All YSC members were invited by email in March 2003 (N= 1,703 women) to participate in this cross-sectional survey. Results: 657 women completed the on-line survey; 622 were eligible for this analysis (age <40, no metastatic or recurrent disease). Mean age at breast cancer diagnosis was 33 years; mean age when surveyed 35.5 years. Stages included: 0 (10%), I (27%), II (49%), III (12%), missing (3%). 90% of women were white; 64% married; 49% with children; 78% had at least a college education; 42% of women reported a 1st or 2nd degree relative with breast or ovarian cancer, and 13% considered themselves high-risk for harboring a genetic mutation at the time of diagnosis. At the time of the survey, 23% of women had undergone genetic testing, and 26% of those tested reported that a mutation was found. In a multivariate model, women who were younger (age 36–40 vs. age =30, O.R. 2.26, p=0.004), more educated (< college vs. > college education, O.R. 2.62, p=0.0009), had a family history of breast or ovarian cancer (O.R. 3.15, p<0.0001), and had had a mastectomy (O.R. 1.99, p=0.001) were more likely to have undergone genetic testing. Non-significant covariates included: age at survey, stage, time since diagnosis, race, marital status, employment, finances, insurance, number of children, comorbidities, baseline anxiety and depression, and fear of recurrence. Conclusion: The majority of women diagnosed with breast cancer age 40 and younger do not undergo genetic testing. Younger, more educated women with a family history of breast or ovarian cancer are more likely to get tested. Further research to define the appropriateness of genetic testing in this relatively high-risk population is warranted. No significant financial relationships to disclose.

EMR documentation of genetics evaluations in patients with ovarian cancer.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13156-e13156
Author(s):  
Payal Deepak Shah ◽  
Heather Symecko ◽  
Melissa Batson ◽  
Stacy Pundock ◽  
Neil Rustgi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Cancer Genetics ◽  
Retrospective Chart Review ◽  
University Of Pennsylvania ◽  
Study Cohort ◽  
Problem List ◽  
Clinical Diagnoses ◽  
History Of

e13156 Background: Genetic testing for hereditary cancer predisposition has become increasingly complex yet impactful. Provider knowledge of test results influences risk management, implications for family members, and therapeutics. Currently, it’s unknown if genetic test (GT) results are appropriately recorded and accessible within the electronic medical record (EMR). Methods: We conducted a single-institution retrospective chart review to examine clinical diagnoses, family history of cancer, genetics referrals, and genetics services received at University of Pennsylvania’s Cancer Risk Evaluation Program (CREP) or elsewhere. The study cohort included new and prevalent cases of ovarian cancer (OC) seen by either a gynecologic or medical oncologist at the University of Pennsylvania in 2016. Analyses were conducted using SAS 9.4. Results: 667 women (83% white, 9% black, 4% Asian; mean age 61) with OC were included. 58% had a documented family history of breast, ovarian, prostate or pancreas cancer. 48% had documentation of referral to genetic testing and an additional 26% had documentation of testing outside of CREP. 26% had no documentation of referral or testing. Of those referred to CREP, 75% had genetic testing: in total 62% of the cohort had documented testing. 94% of those tested had a result documented in a provider note, and 64% had a scanned testing report uploaded into the EMR, including 74.3% of those tested through CREP and 25.7% of those tested outside. Among the 118 pathogenic mutations, 70% were documented on the EMR “problem list.” Conclusions: In this study, most, though not all, OC patients had documentation of a GT referral or testing in the EMR. Although GT results were routinely included in progress notes, these reports were less commonly scanned into the EMR (particularly for those tested outside Penn) or included in the EMR “problem list” which is both searchable and immediately visible. Capturing genetic data in a uniform and easily accessible manner within the EMR is necessary to maximize clinical utility of this information and should be a focus for EMR module development.

Preventing Future Cancers by Testing Women With Ovarian Cancer for BRCA Mutations

2010 ◽  
Vol 28 (4) ◽  
pp. 675-682 ◽  
Author(s):  
Janice S. Kwon ◽  
Molly S. Daniels ◽  
Charlotte C. Sun ◽  
Karen H. Lu
Keyword(s):  
Ovarian Cancer ◽  
Cost Effectiveness ◽  
Family History ◽  
Brca Mutation ◽  
Health Benefit ◽  
Ashkenazi Jewish ◽  
Brca Testing ◽  
Brca Mutations ◽  
Jewish Ancestry ◽  
History Of

Purpose Women with ovarian cancer have a 10% probability of carrying a BRCA mutation. If a mutation is identified, unaffected family members can undergo genetic testing and cancer risk-reducing strategies. We estimated the net health benefits and cost-effectiveness of different criteria for BRCA mutation testing in women with ovarian cancer, and the downstream benefits for their first-degree relatives (FDRs). Methods We developed a Markov Monte Carlo simulation model to compare four criteria for BRCA testing in women with ovarian cancer: no testing (reference); only if personal history of breast cancer, family history of breast/ovarian cancer, or Ashkenazi Jewish ancestry; only if invasive serous cancer; any invasive nonmucinous epithelial cancer. Net health benefit was life expectancy for FDRs and primary outcome was the incremental cost-effectiveness ratio (ICER). The model estimated the number of future breast and ovarian cancer cases in FDRs. Results BRCA testing based on personal/family history and ancestry could prevent future cases in FDRs with an ICER of $32,018 per year of life (LY) gained compared with the reference strategy. BRCA testing based on serous or any nonmucinous epithelial ovarian cancer could prevent more cancer cases, but at ICERs of $128,465 and $148,363 per LY gained, respectively. Conclusion BRCA testing of women with ovarian cancer based on personal/family history of cancer or Ashkenazi Jewish ancestry is a cost-effective strategy to prevent future breast and ovarian cancers among FDRs. More inclusive testing strategies prevent additional cancer cases but at significant cost.

Family history and pathogenic/likely pathogenic germline variants in prostate cancer patients.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 143-143
Author(s):  
Rachel Sabol ◽  
Elisa Marie Ledet ◽  
Ellen Jaeger ◽  
Marcus W. Moses ◽  
Brian E. Lewis ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Personal History ◽  
Sample Collection ◽  
First Degree Relatives ◽  
Pathogenic Variants ◽  
Damage Repair ◽  
History Of

143 Background: Recent literature highlights the importance of germline genetic testing in prostate cancer (PCa) patients. Surprisingly, a literature review indicates that family history records are incomplete in published studies. Methods: Prospective and complete family history data were gathered from 496 men in a single institution with a personal history of PCa who underwent germline genetic testing using a panel of at least 79 genes (Invitae testing) from 2016-2020. Comprehensive FH were obtained in all PCa patients in this database and analysis of prevalent FH was assessed at the time of sample collection. Age, race, metastastes at any time, and Gleason score were also ascertained. MUTYH heterozygotes were not considered pathogenic. Results: Pathogenic/likely pathogenic variants (PV/LPVs) were not associated with age at diagnosis, race, or presence of metastasis. Men with Gleason scores 8-10 at time of diagnosis were more likely to have PV/LPV ( P= 0.004). One or more first degree relatives (FDR) with any cancer with was not predictive for germline PV/LPVs for men with PCa ( P= 0.96). Analysis of patients with one or more FDR with breast, prostate, ovarian, or pancreatic cancer revealed that only FDR with breast cancer ( P = 0.028) or ovarian cancer ( P = 0.015) was predictive for PV/LPVs. Though one or more FDR with prostate cancer did not predict a PV/LPV in the overall panel, further analysis indicate that a history of a FDR with PCa was predictive for PV/LPV in a DNA damage repair (DDR) gene ( P= 0.044). Conclusions: In men with a personal history of PCa, germline PV/LPVs were associated with a FDR with breast or ovarian cancer. A FDR with PCa was predictive for PV/LPV in DDR genes. These data emphasize the contribution of FH to germline genetic testing results in a cohort with complete ascertainment of cancer in first degree relatives.

scholarly journals Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies

Cancers ◽  
2019 ◽  
Vol 11 (2) ◽  
pp. 193 ◽  
Author(s):  
Angela Toss ◽  
Marta Venturelli ◽  
Eleonora Molinaro ◽  
Stefania Pipitone ◽  
Elena Barbieri ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Pancreatic Cancer ◽  
Family History ◽  
Future Research ◽  
Brca Testing ◽  
Brca Mutations ◽  
Cancer History ◽  
Pathogenic Variants ◽  
Cancer Cluster ◽  
History Of

The identification of BRCA mutations plays a crucial role in the management of hereditary cancer prevention and treatment. Nonetheless, BRCA-testing in pancreatic cancer (PC) patients is not universally introduced in clinical practice. A retrospective analysis was conducted, firstly, to evaluate the rate of BRCA-positive families among those presenting a family history of PC besides breast and/or ovarian cancer. Secondly, the relationship between BRCA pathogenic variants and PC risk was evaluated. Finally, the characteristics of PC developed in BRCA families were described. Among 5143 family trees reporting breast and/or ovarian cancer cases, 392 showed a family history of PC. A total of 35 families (24.5% selected by the Modena Criteria and 21.3% by the NCCN Criteria) were positive to BRCA testing. Among the BRCA1 mutations, 36.8% were found within a region defined by c.3239–c.3917, whilst 43.7% of BRCA2 mutations were located within c.7180–c.8248. This study confirmed that an increase in the rate of positive tests in families with PC when associated to breast and/or ovarian tumors. Moreover, this analysis indicated two possible Pancreatic Cancer Cluster Regions that should be verified in future research. Finally, PC in families with breast and/or ovarian cancer history, particularly in BRCA families, were diagnosed at younger age and showed better one-year overall survival.

scholarly journals EPITHELIAL OVARIAN CANCER;

2012 ◽  
Vol 19 (01) ◽  
pp. 040-045
Author(s):  
SARAH SAEED ◽  
MOHAMMAD AKRAM
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Epithelial Ovarian Cancer ◽  
Positive Family History ◽  
Striking Feature ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
University Of Toronto ◽  
Number Of Patients ◽  
History Of

Background: Epithelial ovarian cancer is the most common cancer of gynaecologic origin in Pakistani women. It ranks amongthe ten most common cancers in our women. Despite being commonly encountered, information regarding the clinicopathological features islacking. Objective: To study the clinical and pathological features of epithelial ovarian cancer in our patients. Study Design: Retrospective study.Setting: Department of Medical Oncology, Jinnah Hospital Lahore. Period: Jan 01,2001 to Dec 31, 2002. Patients and methods: All patientswith histological or cytological diagnosis of epithelial ovarian cancer regardless of stage were included in the study. Information was obtainedfrom medical records which were reviewed thoroughly. Blood samples for analysis of BRCA mutations were sent to University of Toronto,Sunnybrook & Women’s College Health Sciences Centre, Toronto, Canada. Results: 75 patients were accrued. Mean age of the patients was47 years. The well defined risk factors such as nulliparity, lack of lactation, early menarche and late menopause were not present in the majorityof our patients. One striking feature was the number of patients with family history of cancer (18.7%). Majority were first degree relatives of thepatients and most had ovarian or breast cancer. BRCA1 and BRCA2 were seen in nine (12%) of the patients. Clinical presentation and histologicfeatures were similar to American and European patients, the only difference was that a large number (88%) of our patients presented withadvanced (stage III or IV) disease. Conclusions: Epithelial ovarian cancer manifests itself in a younger population of our women. Higherfrequency of positive family history was another striking feature of Pakistani patients.

Identifying genomic rearrangements in BRCA1 and BRCA2 in high-risk individuals for hereditary breast and ovarian cancer.

2011 ◽  
Vol 29 (27_suppl) ◽  
pp. 163-163 ◽  
Author(s):  
M. Jackson ◽  
D. Mattair ◽  
H. Lin ◽  
A. M. Gutierrez-Barrera ◽  
N. Elsayegh ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Large Scale ◽  
Cancer Center ◽  
Tumor Characteristics ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Patient Request ◽  
History Of

163 Background: Germline mutations in the BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancer (HBOC). Comprehensive gene sequencing detects ~87% of BRCA mutations, and large genomic rearrangement testing (BART) accounts for ~3%. Criteria have been established to capture individuals who most likely have a BART mutation, however, recent data shows that some individuals have BART mutations and do not meet the criteria. We conducted a single-institution study to evaluate the sufficiency of BART criteria to determine if new criteria are warranted. Methods: During 2006-2008, 172 individuals underwent BRCA sequencing and BART at M. D. Anderson Cancer Center. A retrospective, IRB-approved chart review of a prospectively maintained database was conducted to determine BART criteria eligibility, personal/family history of breast and ovarian cancer and tumor characteristics. Univariate and multivariate analysis was performed to test the significance of each variable in relation to BRCA1/BRCA2 positivity. Results: Of 172 individuals, 12/34 (35%) had BRCA1 BART mutations, and 7/11 (64%) had BRCA2 BART mutations. Of the 19 individuals who tested positive for BART mutations, only 8 (42%) met BART criteria and 11 (58%) did not and proceeded with BART for various reasons (family history, insurance covered, and patient request). Individuals who were BRCA1 positive (sequencing or BART) were more likely to have ER/PR negative breast cancer (p<0.0001) and a personal (p=0.0215)/family history of ovarian cancer (p=0.0001) compared to non-carriers and individuals who had no family history Individuals who were BRCA1 sequencing positive were more likely to meet BART criteria than BRCA1 BART positive (p=0.0151) individuals. Conclusions: Given that no significant differences in family history/tumor characteristics between individuals who have sequencing and BART mutations were identified, and a majority of individuals who were BART positive do not meet BART criteria, it appears that these criteria may be insufficient. BART testing should be considered for all individuals who undergo BRCA sequencing; however, large scale collaboration studies should be conducted.

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