Person:

Syngal, Sapna

Background: To determine whether exposure to a peer-led intervention focused on colorectal cancer (CRC) screening, physical activity, and multi-vitamin intake can lead to increased intentions to be screened for CRC once age eligible among adults under the age of 50. Methods: Participants were residents of low-income housing sites, and CRC screening intentions were assessed at baseline and at follow-up (approximately 2 years later) to determine changes in screening intentions and factors associated with changes in intentions. Results: Participants (n = 692) were 78.4% female, 42.6% Hispanic and 50.8% black. At follow-up, 51% maintained their intention to be screened and 14.6% newly intended to get screened. Individuals newly intending to get screened were more likely to have participated in the intervention, be older, male, and born in Puerto Rico or the United States compared to those who maintained their intention not to get screened (p < 0.05). Conclusion: Exposure to CRC prevention messages before the age of 50 can increase screening intentions among individuals who did not initially intend to get screened. Peer-led interventions to promote CRC screening should include individual less than 50 years of age, as this may contribute to increased screening at the recommended age threshold.

BACKGROUND Universal tumor screening for Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), has been recommended among all patients newly diagnosed with CRC. However, there is limited literature regarding patient perspectives of tumor screening for Lynch syndrome among patients with CRC who are not selected for screening based on family history criteria. METHODS A total of 145 patients aged 39 to 87 years were administered surveys assessing perceived risk, patient perspectives, and potential benefits of and barriers to tumor screening for Lynch syndrome. Associations between patient‐specific and cancer‐specific factors and survey responses were analyzed. RESULTS The majority of participants perceived their risk of developing Lynch syndrome as being low, with 9 participants (6.2%) anticipating an abnormal screening result. However, most participants endorsed the potential benefits of screening for themselves and their families, with 84.8% endorsing ≥6 benefits and 50.3% endorsing all 8 benefits. Participants also endorsed few potential barriers to screening, with 89.4% endorsing ≤4 of 9 potential barriers. A common barrier was worry about the cost of additional testing and surveillance, which was endorsed by 54.5% of participants. The level of distress associated with tumor screening for Lynch syndrome, which was very low, was not associated with age or CRC stage. CONCLUSIONS The results of the current study indicate that patients with CRC overall have a positive attitude toward tumor screening for Lynch syndrome, endorse the benefits of screening, and experience low levels of distress. These findings provide insight into patient attitudes toward tumor screening for Lynch syndrome among unselected patients with CRC to inform educational approaches that assist in patient decision‐making and guide the successful implementation of screening programs. Cancer 2015;121:3281–3289. © 2015 American Cancer Society.

Purpose To assess whether differences in frequency and phenotype of APC and MUTYH mutations exist among racially/ethnically diverse populations. Methods: 6169 individuals with personal and/or family history of colorectal cancer (CRC) and polyps were studied. APC testing involved full sequencing/large rearrangement analysis (FS/LRA); MUTYH involved “panel testing” (for Y165C, G382D mutations), or FS/LRA, performed by Myriad Genetics, a commercial laboratory. Subjects were identified as Caucasian, Asian, African American (AA), or Other. Statistical tests included Chi-Square, Fisher’s Exact, ANOVA and z-approximation. Results: 17.5% had pathogenic APC mutations. 4.8% were biallelic MUTYH carriers. 18% were non-Caucasian with >100 adenomas and younger ages of adenoma or CRC diagnosis (p<0.0001) than Caucasians. The overall APC mutation rate was higher in Asians, AAs and Others compared to Caucasians (25.2%, 30.9%, 24%, 15.5%;p<0.0001) but similar in all groups when adjusted for polyp burden. More MUTYH biallelic carriers were Caucasian or Other than Asian or AA (5%, 7%, 2.7%, 0.3%;p<0.0001). Among Caucasians, 5% were biallelic carriers identified by panel testing versus 2% by sequencing/LRA (p=0.002). Among non-Caucasians, 3% undergoing panel testing were biallelic carriers versus 10% identified by sequencing/LRA(p<0.0002). Conclusion: Non-Caucasians undergo genetic testing at more advanced stages of polyposis and/or younger ages of CRC/polyp diagnosis. Restricted MUTYH analysis may miss significant numbers of biallelic carriers, particularly in non-Caucasians.

PURPOSE: Li-Fraumeni syndrome is a rare hereditary cancer syndrome associated with germline mutations in the TP53 gene. Although sarcomas, brain tumors, leukemias, breast and adrenal cortical carcinomas are typically recognized as Li-Fraumeni syndrome-associated tumors, the occurrence of gastrointestinal neoplasms has not been fully evaluated. In this analysis, we investigated the frequency and characteristics of gastric cancer in Li-Fraumeni syndrome. METHODS: Pedigrees and medical records of 62 TP53 mutation-positive families were retrospectively reviewed from the Dana-Farber/National Cancer Institute Li-Fraumeni syndrome registry. We identified subjects with gastric cancer documented either by pathology report or death certificate and performed pathology review of the available specimens. RESULTS: Among 62 TP53 mutation-positive families, there were 429 cancer-affected individuals. Gastric cancer was the diagnosis in the lineages of 21 (4.9%) subjects from 14 families (22.6%). The mean and median ages at gastric cancer diagnosis were 43 and 36 years, respectively (range: 24-74 years), significantly younger compared with the median age at diagnosis in the general population based on Surveillance Epidemiology and End Results data (71 years). Five (8.1%) families reported two or more cases of gastric cancer, and six (9.7%) families had cases of both colorectal and gastric cancers. No association was seen between phenotype and type/location of the TP53 mutations. Pathology review of the available tumors revealed both intestinal and diffuse histologies. CONCLUSIONS: Early-onset gastric cancer seems to be a component of Li-Fraumeni syndrome, suggesting the need for early and regular endoscopic screening in individuals with germline TP53 mutations, particularly among those with a family history of gastric cancer.

Background: Evidence-based guidelines recommend that all newly diagnosed colon cancers be screened for Lynch syndrome (LS). Best practices for implementing universal tumor screening have not been extensively studied. Purpose We interviewed a range of stakeholders in an integrated health care system to identify initial factors that might promote or hinder the successful implementation of a universal (LS) screening program. Methods: We conducted interviews with health plan leaders, managers, and staff. Interviews were audio recorded and transcribed. Thematic analysis began with a grounded approach and was also guided by the Practical Robust Implementation and Sustainability Model (PRISM). Results: We completed 14 interviews with leaders/managers and staff representing involved clinical and health plan departments. While in general stakeholders supported the concept of universal screening, they identified several internal (organizational) and external (environment) factors that promote/hinder implementation. Facilitating factors included: 1) perceived benefits of screening for patients and organization; 2) collaboration between departments; and 3) availability of organizational resources. Barriers were also found, including: 1) lack of awareness of guidelines; 2) lack of guideline clarity; 3) staffing and program “ownership” concerns; and 4) cost uncertainties. Analysis also revealed nine important infrastructure-type considerations for successful implementation. Conclusion: We found that clinical, laboratory, and administrative departments supported universal tumor screening for LS. Requirements for successful implementation may include interdepartmental collaboration and communication; patient and provider/staff education; and significant infrastructure and resource support related to laboratory processing and systems for electronic ordering and tracking.