47 Background: National Comprehensive Cancer Network (NCCN) guidelines recommend that individuals with >10 adenomatous polyps, ≥2 hamartomatous polyps, or ≥5 serrated polyps proximal to the sigmoid colon have detailed risk assessment and potential genetic testing to rule out polyposis syndrome. Here, we describe germline testing of patients with a personal history of colorectal polyposis by Cancer Genetics Counseling Services. Methods: This is an IRB-approved retrospective chart-review study. Between 2016 and 2020, 1011 unique genetic counseling visits were conducted. Germline testing was recommended by a certified genetic counselor if medically necessary. All patients with a personal history of colorectal polyposis were identified (N=20) and their germline testing results were summarized. Results: The reasons for referral to the Cancer Genetics Counseling Services were personal history of >10 adenomatous polyps (N=13), personal and family history of colorectal polyposis (N=3), personal history of juvenile colorectal polyps (N=3) or personal history of ≥2 hamartomatous polyps (N=1). The median age is 58 years-old (1-84). Ten (50%) patients were females. Caucasians, African Americans and other ethnic backgrounds represented 80%, 10% and 10% respectively. In our cohort, 6 out of 20 (30%) patients had a pathogenic germline mutation, 5 (25%) patients had variant of unknown significance (VUS) and 9 (45%) patients had negative testing. Among patients with pathogenic germline mutations, 3 patients had a pathogenic APC mutation (APC c.1659G>A, APC c.2802C>A and APC c.1643dupT) and were diagnosed with Familial Adenomatous Polyposis (FAP). One patient had 2 pathogenic MUTYH mutations (MUTYH c.536A>G and MUTYH c.1187G>A) and was diagnosed with One patient had a pathogenic PTEN c.634+5G>A mutation and was diagnosed with PTEN Hamartoma Tumor Syndrome. Among the 3 patients with a personal history of juvenile colorectal polyps, one patient had a CHEK2 c.190G>A mutation while the other two had negative genetic test results. The VUS mutations in our cohort were MRE11A c.826C>T, BLM c.3478T>C, BRCA2 c.2519T>C, CHEK2 p.V395L and CTNNA1 c.392dupT. Conclusions: In our cohort of patients with personal history of colorectal polyposis, the majority of patients (45%) had negative germline testing. An underlying pathogenic germline mutation and VUS were identified in 30% and 25% of the patients, respectively. FAP Syndrome was the most commonly diagnosed hereditary polyposis syndrome with 3 patients found to have APC germline mutations. Other pathogenic mutations were identified in the MUTYH, PTEN and CHEK2 genes. Patients with MUTYH and PTEN mutations were diagnosed with MAP and PTEN Hamartoma Tumor Syndromes respectively.
e24046 Background: The transition of cancer patients from patients to survivors is challenging. Cancer survivors often experience chronic physical, social and mental health needs which remain largely unmet. Due to the growing population of cancer survivors and limited resources available to address their needs, mobile health applications (apps) have emerged to help cancer patients in assuming their new role as survivors. Here, we explored the prevalence and sociodemographic predictors of mobile health apps ownership among Cancer Survivors in the United States using a nationally representative sample. Methods: Data from cycles 1 (2017) and 2 (2018) of the 5th edition of the Health Information National Trends Survey (HINTS 5) was reviewed. Descriptive statistics was used to evaluate the sociodemographic characteristics and the prevalence of mobile health apps ownership among cancer survivors. Univariate logistic regression models were used to explore the relationship between sociodemographic predictors and mobile health apps ownership. Results: We identified 1,097 (weighted estimate of 44,666,781) individuals who self-reported having been diagnosed with cancer in the . Of these, 57.39% were females, 79% were whites, 47.18% had 2 or more medical comorbidities, 63.7% were unemployed and about 50% were aged 65 or more. Prevalence of mobile health apps ownership was 44.82%. Among all the sociodemographic variables; educational level (p = 0.015), income (p = 0.014) and employment status (p < 0.005) were predictors of mobile health apps ownership among cancer. Conclusions: Cancer survivors are digitally connected and can be approached through mobile health apps. In our study, the prevalence of mobile health apps ownership in cancer survivors was 44.8%. Educational level, income and employment status were identified as predictors of mobile health apps ownership. Due to the growing population of cancer survivors and limited resources available to address their needs, efforts to address barriers of mobile health apps adoption and utilization should be encouraged.
44 Background: Checkpoint Kinase 2 (CHEK 2) encodes the protein CHK2, a serine/threonine kinase involved in pathways that conduct DNA repair as well as apoptosis in response to initial DNA damage. Germline mutations in the CHEK2 gene are associated with several malignancies such as colon, breast, stomach, prostate, kidney, thyroid and soft tissue cancers. Here, we describe the clinical and molecular characteristics of patients with personal or family history of gastrointestinal (GI) malignancies/polyposis and CHEK2 gene mutations. Methods: This is an IRB-approved retrospective chart-review study. Between 2016 and 2020, 1011 unique genetic counseling visits were conducted. Germline testing was recommended by a certified genetic counselor if medically necessary. All patients with a germline CHEK2 mutation were identified (N = 16). Patients with a CHEK2 mutation and personal and family history of GI malignancies/polyposis were further explored and their clinical and molecualr characteristics are summarized. Results: The reasons for referral to the Cancer Genetics Counseling Services in patients with pathogenic CHEK2 mutations were personal history of colon cancer (N = 3) and family history of colon cancer (N = 4). One patient with the CHEK2 c.1100delC mutation had a personal history of juvenile polyposis syndrome and a family history of colon cancer. In our cohort, 11 out of 16 (69%) patients had a CHEK2 mutation and personal or family history of GI malignancies/polyposis. The median age was 57 years old (25-80). Six (55%) patients were males. All (100%) patients were Caucasians. Seven (64%) patients had a pathogenic germline CHEK2 mutation and 4 (36%) patients had a variant of unknown significance (VUS). Among patients with pathogenic germline CHEK2 mutations (N = 7), 5 (72%) patients had CHEK2 c.1100delC mutation, 1 (14%) patient had CHEK2 c.190G > A mutation and 1 (14%) patient had CHEK2 c.470T > C mutation. The CHEK2 VUS mutations seen in our cohort were CHEK2 c.539G > A, CHEK2 p.V395L, CHEK2 gain of exons 3-15 and CHEK2 c.1421G > A mutations. Conclusions: All patients in our cohort with CHEK2 mutations were Caucasians. The majority of our patients (69%) had an underlying personal or family history of GI malignancies/polyposis. In patients with personal or family history of GI malignancies/polyposis and CHEK2 mutation, 64% were found to have pathogenic CHEK2 mutations. The most common diagnosed CHEK2 mutation in our cohort was CHEK2 c.1100delC mutation.
46 Background: Genetic susceptibility to colorectal cancer (CRC) include well-defined hereditary syndromes such as Lynch Syndrome, Familial Adenomatous Polyposis syndrome (FAP), MUTYH-Associated Polyposis syndrome (MAP) and other less common syndromes. National Comprehensive Cancer Network (NCCN) guidelines recommend that individuals meeting certain criteria have detailed risk assessment and potential genetic testing. Here, we describe the clinical and molecular characteristics of patients with personal history of CRC evaluated by cancer genetics counseling services. Methods: This is an IRB-approved retrospective chart-review study. Between 2016 and 2020, 1011 unique genetic counseling visits were conducted. Germline testing was recommended by a certified genetic counselor if medically necessary. All patients with a personal history of CRC were identified (N = 52) and their clinical and molecular characteristics were summarized. Results: The median age is 50 years-old (29-82). Thirty-five (67%) patients were females. Caucasians, African Americans and other ethnic backgrounds represented 75%, 19% and 6% respectively. The primary tumor location was in the right colon, left colon and rectum in 29%, 37% and 27% of our cohort respectively. In 7%, the primary location of the tumor was not available. In our cohort, 11 out of 52 (21%) patients had a pathogenic germline mutation and 9 patients (17%) had a germline variant of unknown significance (VUS). Among patients with pathogenic germline mutations (N = 11), 4 patients had MSH2 mutations (MSH2 c.1759+1G > A, MSH2 c. 1687dupT, MSH2 c.1861C > T and MSH2 c.811_814delTCTG), 1 patient had a MSH6 mutation (MSH6 c.1012A > T), 1 patient had a PMS2 mutation (PMS2 c.2182_2184delACTinsG), 3 patients had CHEK2 mutations (CHEK2 c.1100delC and CHEK2 c.470T > C (p.I157T)), 2 patients had MUTYH mutations (MUTYH c.1187G > A and MUTYH c.536A > G) and 1 patient had a BRCA2 mutation (BRCA2 c.2808_2811delACAA). One patient had a CHEK2 and a MUTYH mutation. The VUS mutations in our cohort were POLE c.1645T > C, POLE c.5480C > T, c.2999G > A, MLH1 c.1628A > G, CTNNA1 c.503G > A, MSH2 c.128A > G, NBN c.16C > T, ATM c.6537T > G and AXIN2, BRCA1, NTHL1 mutations. Conclusions: In our cohort of patients with personal history of CRC, the majority of patients (62%) had negative germline testing. An underlying pathogenic germline mutation and VUS were identified in 21% and 17% of the patients respectively. Lynch Syndrome was the most commonly diagnosed hereditary CRC syndrome with 6 out of 11 patients found to have MMR germline mutations. Other pathogenic mutations were identified in the CHEK2, MUTYH and BRCA2 genes.
10535 Background: Despite advances in cancer prevention and wide-spread availability of Human papilloma virus (HPV) vaccines, US adults continue to have suboptimal HPV vaccination uptake with less than 50% vaccinated. Strategies aimed at enhancing HPV-related awareness are considered one of the most effective ways to improve HPV vaccine adoption and potentially eliminate HPV-related cancers. Health information technology (HIT) may influence HPV-related awareness and subsequently drive vaccine adoption. This study assessed the impact of HIT utilization on HPV and HPV vaccine awareness. Methods: Data was obtained from Health Information National Trends Survey (HINTS 5 cycles 1 and 2). Cross-sectional sample of 6,522 individuals aged 18 years or more was analyzed. The independent variables were use of smartphone, computer, or electronic means to (i) look up health information, (ii) fill a prescription online, (iii) communicate with a doctor or doctor’s office, (iv) look up test results of and (v) track health care charges. The dependent variables were HPV and HPV vaccine awareness. Chi-square analysis was used to evaluate group differences, and a multiple logistic regression was used to analyze the association between HIT utilization and HPV-related awareness controlling for sociodemographic and health-related factors. Results: Of the total sample, awareness of HPV and HPV vaccine was 62.7% and 61.8% respectively. In adjusted multivariable logistic regression analysis, those who utilized a smartphone, computer, or electronic means to look up health information (aOR 2.23; 95% CI 1.68 – 2.97, p < 0.001), communicate with healthcare provider (aOR 1.53; 95% CI 1.23 – 1.91, p < 0.001), look up test results (aOR 1.67; 95% CI 1.35 – 2.08, p < 0.001), and track health care charges (aOR 1.61; 95% CI 1.26 – 2.05, p < 0.001), were more likely to endorse HPV awareness than those who did not. Similar positive associations were observed for HIT utilization and HPV vaccine awareness. Conclusions: Our findings showed a positive association between HIT utilization and HPV-related awareness. Amid a background of sub-optimal HPV vaccination and explosion in technology, these results emphasize the potential for the role of HIT in preventive medicine. Strategies that integrate HIT into vaccine interventions and communications should be encouraged as a medium to expand HPV awareness and vaccine coverage.
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