Clinical characteristics of men with prostate cancer and evaluation of NCCN prostate cancer guidelines on germline genetic testing outcomes.

2019 ◽  
Vol 37 (7_suppl) ◽  
pp. 252-252
Author(s):  
Samantha Greenberg ◽  
Brock O'Neil ◽  
Kathleen A. Cooney ◽  
Lisa M. Pappas ◽  
Jonathan David Tward
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Clinical Characteristics ◽  
Genetic Counselor ◽  
Clinical Information ◽  
Risk Groups ◽  
Genetic Test Results ◽  
History Of

252 Background: Growing evidence suggests up to 12% of men with metastatic prostate cancer (PC) harbor a pathogenic variant (PV) in genes associated with hereditary cancer risk. Updated NCCN PC guidelines include consideration for germline testing (GT) in men with high risk, very high risk, regional, or metastatic PC. As a result, we expanded our criteria for GT in men with PC to include these groups and men with a strong family history for PC beginning in January 2018. This study reports the clinical characteristics and germline findings before and after this expansion. Methods: Men with PC underwent multi-gene genetic testing (GT) for PVs from June 2016-June 2018 with genetic counselors. Clinical information and germline GT results were analyzed. Results: Of 285 eligible men who met with a genetic counselor, there were 201 evaluable GT results. One PV was excluded for suspicion of clonal hematopoiesis of indeterminate potential. Twenty-seven PVs were identified in 24 men (12.4%). Three men had two PVs identified (1.5%), at least one PV of which was in ATM or BRCA2. The most common PVs were ATM (n = 6, 3.0%), BRCA2 (n = 7, 3.5%), MYH (n = 4, 2.0%), and HOXB13 (n = 4, 2.0%). Rate of PVs were not statistically different across the two timeframes of GT, (2016-17, 14%; 2018, 11.2%; p = 0.60). PVs were not statistically associated with a higher ISUP group (1-3: 10.1%, 4-5: 13.6%; p = 0.49) and were distributed across multiple NCCN risk groups. Almost all men tested reported a family history of cancer, with the most frequent cancers reported including PC (n = 79, 39.3%), breast (n = 55, 27.4%), and colon cancer (n = 23, 11.4%). Family history of PC was not statistically associated with genetic test results (PV: 54%, no PV: 37%; p = 0.11). Conclusions: Expanding germline GT criteria will substantially increase patient volume without significant changes to the PV rate. Higher PC risk defined by ISUP or NCCN was not associated with the rate of PVs. Given this finding, further broadening the criteria for GT in PC may be warranted.

Inherited germline mutations in men with prostate cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e16564-e16564
Author(s):  
Robert Reid ◽  
Marcie DiGiovanni ◽  
Ryan Bernhisel ◽  
Krystal Brown ◽  
Jennifer Saam ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Hereditary Cancer ◽  
Clinical Information ◽  
Nccn Guidelines ◽  
Commercial Laboratory ◽  
Pathogenic Variants ◽  
Age Of Diagnosis ◽  
History Of

e16564 Background: Recent studies have demonstrated a high prevalence of pathogenic variants (PVs) in genes that confer hereditary cancer risk among men with metastatic prostate cancer (PC); however, PC does not currently receive attention as an indication for genetic testing. We assessed the clinical features of men with PC who received clinical testing as well as the distribution of PVs identified. Methods: A commercial laboratory database was queried to identify men with PC who underwent testing with a multi-gene hereditary cancer panel from September 2013–September 2016. Clinical information was obtained from provider-completed test request forms. Individuals with PC only were evaluated separately from those who had ≥1 additional malignancy. Personal/family history was evaluated relative to the 2013 NCCN guidelines for hereditary breast and ovarian cancer (HBOC) testing. Results: Overall, 700 men with a personal history of PC were identified: 384 (54.9%) with only PC and 316 (45.1%) with PC and ≥1 additional malignancy. The most common additional malignancies were colorectal (115) and breast cancer (105). The median age of diagnosis in men with only PC was 57.5, which is younger than tested men who had an additional malignancy (62) and the SEER data (2009-2013) for all men with PC (66). HBOC testing criteria were met by 75.9% of men, including 44 (6.3%) who met based only on a personal/family history of PC and 202 (28.9%) who met in part due to a personal/family history of PC. PVs were identified in 14.0% of all men: 11.5% of men with PC only and 17.1% of men with PC and a second malignancy (see Table). Conclusions: PC patients selected for genetic testing here were younger than men diagnosed with PC from the general population (SEER), and almost half had a diagnosis of an additional malignancy. They also have a high positive mutation rate across a broad spectrum of genes. [Table: see text]

Inherited germline mutations in men with prostate cancer.

2018 ◽  
Vol 36 (6_suppl) ◽  
pp. 357-357
Author(s):  
Robert Reid ◽  
Marcie DiGiovanni ◽  
Ryan Bernhisel ◽  
Krystal Brown ◽  
Jennifer Saam ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Hereditary Cancer ◽  
Clinical Information ◽  
Nccn Guidelines ◽  
Pathogenic Variants ◽  
Seer Data ◽  
Age Of Diagnosis ◽  
History Of

357 Background: Recent studies have demonstrated a high prevalence of pathogenic variants (PVs) in genes that confer hereditary cancer risk among men with metastatic prostate cancer (PC); however, PC does not currently receive attention as an indication for genetic testing. We assessed the clinical features of men with PC who received clinical testing as well as the distribution of PVs identified. Methods: Men with PC who underwent testing with a multi-gene hereditary cancer panel (Myriad Genetic Laboratories) from September 2013–September 2017 were included. Clinical information was obtained from provider-completed test request forms. Individuals with PC only were evaluated separately from those who had ≥1 additional malignancy. Personal/family history was evaluated relative to the 2013 NCCN guidelines for hereditary breast and ovarian cancer (HBOC) testing. Results: Overall, 1004 men with a personal history of PC were identified: 606 (60.4%) with only PC and 398 (39.6%) with PC and ≥1 additional malignancy. The most common additional malignancies were breast (136) and colorectal cancer (134). The median age of diagnosis in men with only PC was 59, which is younger than tested men who had an additional malignancy (63) and the SEER data (2009-2013) for all men with PC (66). HBOC testing criteria were met by 78.0% of men, including 68 (6.8%) who met based only on a personal/family history of PC and 330 (32.9%) who met in part due to a personal/family history of PC. PVs were identified in 12.9% of all men: 11.2% of men with PC only and 15.4% of men with PC and a second malignancy (Table). Conclusions: PC patients selected for genetic testing here were younger than men diagnosed with PC from the general population (SEER), and about a third had a diagnosis of an additional malignancy. They also have a high positive mutation rate across a broad spectrum of genes. [Table: see text]

Germline mutations in DNA repair genes in a large series of unselected Chinese prostate cancer patients.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e17523-e17523
Author(s):  
Yu Wei ◽  
Yao Zhu ◽  
Junlong Wu ◽  
Dingwei Ye ◽  
Hao Zeng ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Cancer Patients ◽  
Germline Mutations ◽  
Dna Repair Genes ◽  
History Of ◽  
Repair Genes

e17523 Background: Germline DNA repair gene (DRG) mutations has emerged as a potential determinant of cancer risk and therapeutic response in PCa. Despite substantial advances in delineating the germline mutation in DRGs among Caucasian population, the prevalence of mutations in DRGs are largely unknown among a large series of unselected prostate cancer patients in Chinese population. Methods: We enrolled 1003 prostate cancer patients from three different hospitals in China, unselected for family history of cancer or age at diagnosis. All patients received germline genetic testing using a clinician-selected multi-gene panel. The 18 DNA repair genes and HOXB13, which has established or emerging potential clinical actionability in PCa, were analyzed in our study. Results: A total of 94 (9.7%) deleterious germline mutations were identified among the 1003 unselected prostate cancer patients. Of these, 5.6% patients carried a BRCA1 or BRCA2 mutations (5.2% in BRCA2 and 0.4% in BRCA1), 3.6% patients carried other DRG mutations (including 10 genes) and 0.5% patients carried HOXB13 mutations. Besides, variants with uncertain significance (VUS) were found in approximately 45% patients. We also divided 633 metastatic PCa patients into 542 de novo metastastic PCa and 91 recurrent metastastic PCa and found mutation frequencies did not differ between these two groups (9.0% vs 11.6%, p = 0.6). Patients with younger age of onset or family history of cancers were more likely to harbour germline mutations in DRGs. However, the rate of germline mutations were still at a high level for patients more than 70 years old (6.7%) and patients without family history of cancers (7.5%). There is no statistically significant difference in the mutation frequencies between patients with metastasis and without metastasis (7.5% vs 9.2%, p = 0.4), which may be because 85% patients without metastasis in our cohort were in high to very high risk group or have lymph node metastasis. Conclusions: To our knowledge, our study reported the largested series of Chinese PCa patients who received germline genetic testing. Our study provided a rationality for germline genetic testing criteria from high risk to metastastic PCa regardless of family history considering the high proportion. In addition, we recommended a multigene panel covering 13 genes ( ATM, BRCA1, BRCA2, CHEK2, FANCA, HOXB13, MSH2, MSH6, NBN, PALB2, RAD51C, RAD51D, TP53) in China. Nevertheless, the high prevalence of VUS (45%) in Chinese PCa patients warrant further efforts.

scholarly journals Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness

2020 ◽  
Author(s):  
Leann A Lovejoy ◽  
Clesson E Turner ◽  
Craig D Shriver ◽  
Rachel E Ellsworth
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Cancer Predisposition ◽  
Clinical Genetic ◽  
High Risk Women ◽  
Clinical Genetic Testing ◽  
Pathogenic Mutations ◽  
History Of ◽  
Risk Reducing

Abstract Background The majority of active duty service women (ADS) are young, have access to healthcare, and meet fitness standards set by the U.S. military, suggesting that ADS represent a healthy population at low risk of cancer. Breast cancer is, however, the most common cancer in ADS and may have a significant effect on troop readiness with lengthy absence during treatment and inability to return to duty after the treatment. The identification of unaffected ADS who carry germline mutations in cancer predisposition genes (“previvors”) would provide the opportunity to prevent or detect cancer at an early stage, thus minimizing effects on troop readiness. In this study, we determined (1) how many high-risk ADS without cancer pursued genetic testing, (2) how many previvors employed risk-reducing strategies, and (3) the number of undiagnosed previvors within an ADS population. Methods The Clinical Breast Care Project (protocol WRNMMC IRB #20704) database of the Murtha Cancer Center/Walter Reed National Military Medical Center was queried to identify all ADS with no current or previous history of cancer. Classification as high genetic risk was calculated using National Comprehensive Cancer Network 2019 guidelines for genetic testing for breast, ovary, colon, and gastric cancer. The history of clinical genetic testing and risk-reducing strategies was extracted from the database. Genomic DNA from ADS with blood specimens available for research purposes were subjected to next-generation sequencing technologies using a cancer predisposition gene panel. Results Of the 336 cancer-free ADS enrolled in the Clinical Breast Care Project, 77 had a family history that met National Comprehensive Cancer Network criteria for genetic testing for BRCA1/2 and 2 had a family history of colon cancer meeting the criteria for genetic testing for Lynch syndrome. Of the 28 (35%) high-risk women who underwent clinical genetic testing, 11 had pathogenic mutations in the breast cancer genes BRCA1 (n = 5), BRCA2 (n = 5), or CHEK2 (n = 1). Five of the six ADS who had a relative with a known pathogenic mutation were carriers of the tested mutation. All of the women who had pathogenic mutations detected through clinical genetic testing underwent prophylactic double mastectomy, and three also had risk-reducing salpingo-oophorectomy. Two (6%) of the 33 high-risk ADS tested only in the research setting had a family history of breast/ovarian cancer and carried pathogenic mutations: one carried a BRCA2 mutation, whereas the other carried a mutation in the colon cancer predisposition gene PMS2. No mutations were detected in the 177 low-risk women tested in the research setting. Discussion Within this unaffected cohort of ADS, 23% were classified as high risk. Although all of the previvors engaged in risk-reduction strategies, only one-third of the high-risk women sought genetic testing. These data suggest that detailed family histories of cancer should be collected in ADS and genetic testing should be encouraged in those at high risk. The identification of previvors and concomitant use of risk-reduction strategies may improve health in the ADS and optimize military readiness by decreasing cancer incidence.

scholarly journals Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Aggressive Disease ◽  
Mutation Carriers ◽  
The Family ◽  
History Of ◽  
Prevention Clinic

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

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.

Streamlining the genetics pipeline to increase testing for patients at risk for hereditary prostate cancer.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1590-1590
Author(s):  
Barry Tong ◽  
Hala Borno ◽  
Eric Jay Small ◽  
Fern Alagala ◽  
Amie Blanco ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Metastatic Prostate Cancer ◽  
Genetic Counselor ◽  
Germline Mutations ◽  
Genetic Counselors ◽  
High Risk Population ◽  
Risk Population ◽  
Positive Results

1590 Background: Metastatic prostate Cancer (mPCa) is increasingly recognized as a heritable disease and germline genetic testing has increasingly become a part of standard of care. At the University of California at San Francisco (UCSF) Genitourinary (GU) Medical Oncology clinic, approximately 850 new patients with mPCa are seen annually. A feasibility pilot Genetic Testing Station (GTS) was developed to expand access to genetic testing among this high-risk population. GTS is facilitated by Genetic Counselor Assistants (GCA) under the supervision of genetic counselors. Methods: This is a feasibility pilot of a GTS model among patients with mPCa. In this model, all patients with mPCa are offered a same day GTS visit with a GCA. At the GTS, the patient receives pre-test education via videos developed by genetic counselors. The patient provides informed consent, a family history, and a saliva sample for Invitae’s 87-gene panel. All positive results trigger a genetic counselor visit while non-positive results either receive a letter or a genetic counselor visit (in person or via telehealth). To evaluate the model, testing frequency and laboratory turnaround time (TAT) was assessed before and after the pilot. Results: In the first four months of the GTS pilot (10/14/2019 – 02/10/2020), 94 patients were referred and received genetic testing. Eight germline positives were identified (BRCA2, CHEK2, HOXB13 MSH6, RECQL4). The average TAT was 8 days. 9.3% of patients were found to have pathogenic mutations through the prostate GTS which is comparable to previously published rates of germline mutations in metastatic prostate cancer patients. In a 4-month time frame the prior to the intervention (10/01/2018-1/31/2019), 26 genetic testing orders were placed. The average laboratory TAT in this prior process was 17 days. Rates of positive germline mutations in the prior model was 8.6%. Conclusions: The GTS is a feasible method to increase access to germline genetic testing among a high-risk population. It may reduce barriers to testing and facilitate real-time discussion of treatment and prevention strategies with patients and family members. As a result, we will continue to operate the GTS. This model provides a framework for scaling access for and cascade testing in other high-risk patient groups.

Streamlining the genetics pipeline to increase testing for patients at risk for hereditary prostate cancer.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 66-66
Author(s):  
Barry Tong ◽  
Hala Borno ◽  
Fern Alagala ◽  
Kelly Gordon ◽  
Eric Jay Small ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Metastatic Prostate Cancer ◽  
Medical Oncology ◽  
Cancer Genetics ◽  
Genetic Counselor ◽  
Turnaround Time ◽  
Gene Panel

66 Background: At UCSF, ~850 men with metastatic prostate cancer are seen annually, all of whom should receive germline genetic testing. Prior to our study, the GU medical oncology program offered a self-pay, take-home genetic testing kit (30-gene panel) to patients with metastatic prostate cancer. Patients with positive test results were referred for genetic counseling. For this study, the UCSF Cancer Genetics and Prevention program partnered with the GU medical oncology program, adapting a Genetic Testing Station (GTS) to expand access and accommodate testing needs. At Prostate GTS, a genetic counselor assistant (GCA) facilitates cancer genetics education by video, enrolls patient in a research registry, collects a family history and saliva sample sent for an 87-gene panel. Our study evaluates the effectiveness of the GTS by comparing prospective performance metrics and testing outcomes of Prostate GTS with retrospective data obtained from the take-home method (“Before GTS”). Methods: Men were ascertained by their treating oncologist and referred for GTS. Indications for genetic testing include: all metastatic prostate cancer, or under age 50 at diagnosis, or with family history, or at clinician discretion. GTS metrics were prospectively collected by clinical staff. “Before GTS” metrics were retrospectively collected through data reporting from commercial lab analysis (test orders dated 01/2017 to 09/2019) and patient chart review. Results: In the first 6 months of Prostate GTS (10/2019-3/2020), 139 patients received testing at the GTS and 91% (127) had received results at censoring. GTS results were distributed as follows: 10% (13) positives, 33% (42) negative no VUS, and 57% (72) negative w/VUS. In the 33 months, “Before GTS”, 218 genetic testing orders had been placed, with 78% (196) reported at censoring, distributed as 11% (22) positive, 68% (134) negative no VUS, and 20% (40) negative w/VUS. The rate of incomplete tests decreased significantly with the GTS, (22% down to 9%, p = 0.0008). "Before GTS", of patients with a positive result, 15/22 (68%) were referred for genetic counseling, of which 8 completed a visit (36% of all positives). In the GTS model, all patients with positive results were seen by a genetic counselor for results disclosure and counseling. Comparing result rates across similar timeframes, 127 results were reported from GTS compared to 40 results from “Before GTS” in the same calendar months the year prior, representing a 218% increase in returned results. Median turnaround time decreased from 16 days to 9 days with GTS. Conclusions: GTS efficiently increased access to genetic testing and counseling for patients with prostate cancer. By leveraging GCAs and video education, this model involves cancer genetics at each step of the process, decreases turnaround time, and increases rates of returned results that can be used by patients to inform treatment and prevention strategies.

Factors associated with positive germline testing results in men with prostate cancer following NCCN guideline expansion.

2020 ◽  
Vol 38 (6_suppl) ◽  
pp. 230-230
Author(s):  
Trevor Charles Hunt ◽  
Samantha Greenberg ◽  
Jacob P. Ambrose ◽  
Brock B. O'Neil ◽  
Jonathan David Tward
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Gleason Grade ◽  
Grade Group ◽  
Nccn Guidelines ◽  
Factors Associated ◽  
Patient Level ◽  
History Of ◽  
Germline Testing

230 Background: Pathogenic variants (PV) in genes associated with hereditary cancer risk account for over 10% of cases in men with metastatic prostate cancer (PCa). NCCN guidelines encouraging germline testing (GT) in metastatic PCa were recently expanded to include all men with high risk, very high risk, or regional PCa. Previously, we showed that the rate of PV findings did not significantly decrease after expansion of these criteria. In this study, we sought to identify factors associated with a PV finding. Methods: Men with PCa underwent multi-gene GT for PVs from April 2016 – December 2018 according to NCCN guidelines pre- (2016-17) and post-expansion (2018). The association of patient-level factors of interest with a positive GT result, where at least one PV was identified, was modeled with univariate logistic regression while overall model significance was validated with ANOVA. Results: Of 410 men undergoing GT, 44 (10.7%) positive and 366 (89.3%) negative tests resulted. Mean age at diagnosis was 62.2 years. Positive testing remained stable from 9.4% to 11.2% following guideline expansion (p=0.62). None of the patient-level factors of interest were significantly associated with increased odds of a positive GT result in any model generated. These factors included age at diagnosis, race, pretreatment PSA, Gleason grade group, NCCN risk group, and family history of cancer (breast and ovarian, prostate, any cancer). Model p-values ranged from 0.84 for Gleason grade group to 0.12 for family history of any cancer. Conclusions: Future work will need to further elucidate the role of patient-level factors in identifying men with PCa at increased risk for harboring a germline PV. Nonetheless, the lack of identification of other factors associated with positive GT results and a stable PV detection rate of roughly 10% support the recent expansion of NCCN testing guidelines. Given these findings, consideration of even broader NCCN criteria for GT may be justified.

Adult cancer survivorship referrals for hereditary cancer genetic testing.

2018 ◽  
Vol 36 (7_suppl) ◽  
pp. 183-183
Author(s):  
Farzana L. Walcott ◽  
Rebecca Davidson Kaltman ◽  
Elizabeth Hatcher ◽  
Cam Ha ◽  
Tara Biagi ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Cancer Survivorship ◽  
Nurse Practitioner ◽  
Hereditary Cancer ◽  
Hereditary Cancer Syndromes ◽  
History Of ◽  
Cancer Syndromes ◽  
History Of Cancer

183 Background: Genetic testing for hereditary cancer syndromes is underutilized among cancer patients. Cancer survivorship clinics may identify individuals at risk for hereditary cancer. We present the number of referrals from George Washington (GW) Adult Cancer Survivorship Clinic (ACS) to the GW Ruth Paul Hereditary Cancer Program (RPHCP) to demonstrate the feasibility of identifying high risk individuals in cancer survivorship. Methods: We reviewed the number of patients seen at the GW ACS and subsequent referrals to the GW RPHCP for genetic counseling/testing. An IRB approved research registry was used for retrieval of the data. The ACS clinic is staffed by a physician internist trained in clinical cancer genetics and a nurse practitioner trained in cancer survivorship. Results: 261 patients were seen in ACS from January 1, 2016, to September 30, 2017. Twenty patients (7.6%) were referred to RPHCP based on personal/family cancer history. Three patients were not consented for the research registry, leaving a total of 17 patients for this analysis. Fifteen (88.2%) patients were referred by the physician and 2/17 (11.7%) were referred by the nurse practitioner. Sixteen patients had genetic testing (94.1%) and results were: 5/16 (31.2%) positive, 6/16 (37.5%) negative, and 3/16 (18.7%) had a variant of unknown significance (VUS). Results on 2 patients are pending. One patient deferred testing. Of the 17 patients referred, 14/17 (82.3%) had personal/family history of cancer and had seen an oncologist. Cancer sites and germline mutations identified were: bilateral breast cancer and bladder cancer (BRCA2), prostate cancer (MUTYH), breast and ovarian cancer (BRCA1), endometrial cancer (APC). One patient without cancer was referred by an oncologist for a previously identified familial MLH1 mutation, and was positive. Conclusions: Cancer survivorship clinics may identify individuals appropriate for genetic testing for hereditary cancer syndromes. This is likely an underestimate as not all cancer patients are seen in survivorship clinic. Systematic capture of personal and family history of cancer in cancer survivors may enhance utilization of genetic testing services among cancer survivors and identification of high risk individuals.

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