Despite significant progress in our understanding of the etiology, biology and genetics of colorectal cancer, as well as important clinical advances, it remains the third most frequently diagnosed cancer worldwide and is the second leading cause of cancer death. Based on demographic projections, the global burden of colorectal cancer would be expected to rise by 72% from 1.8 million new cases in 2018 to over 3 million in 2040 with substantial increases anticipated in low- and middle-income countries. In this meeting report, we summarize the content of a joint workshop led by the National Cancer Institute and the International Agency for Research on Cancer, which was held to summarize the important achievements that have been made in our understanding of colorectal cancer etiology, genetics, early detection and treatment and to identify key research questions that remain to be addressed.

In this report, we describe the first concluded case of a de novo germline mutation in CDH1 in a hereditary diffuse gastric cancer (HDGC) kindred. The incident case was a woman with a personal history of Hodgkin's lymphoma and diffuse gastric cancer, who was then confirmed to have a CDH1 mutation (c.1792 C>T (R598X)). The patient's mother was found to have the same CDH1 germline mutation; however, neither maternal grandparent was found to carry the mutation, thus leading to a conclusion that the proband's mother's mutation is of de novo origin. This case highlights the importance of recognition of the HDGC syndrome and of testing for CDH1 germline mutations in young individuals with diffuse gastric cancer without a family history of the disease.

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Background: There is increasing interest in studying tissue from patients (pts) with metastatic breast cancer (MBC). Historically, limited tissue has been available. Possible barriers to research biopsies (bx) include pt and provider opinions; the contribution of each factor is unknown. Methods: 309 academic breast medical oncologists (MOs) identified from the websites of each of the National Cancer Institute - designated cancer centers were invited to complete either a self-administered paper or online survey. Eligible MOs (MOs who saw breast cancer pts and who saw pts 4 hours/week.) were asked to predict what proportion of their pts with MBC would consent to additional bx (ABs, additional bx performed with a clinically indicated bx) or research purposes only bx(RPOBs, research bx performed as a standalone procedure). They were also asked about their comfort levels in asking pts with MBC to consider participating in ABs or RPOBs for various organs. Median values are reported. Two-sided Fisher's exact test was used to compare categorical variables using a a level of .05. Results: 191 (101F,85M, 5 unknown) eligible MOs completed the survey. 29 MOs were ineligible (response rate = 191/280,68%). Median age was 50 (Range 33-80). Median years of oncology experience was 15 (Range 1-45). MOs predicted that 90%, 75%, 70% and 50%, of their pts would definitely/probably consider ABs of blood, skin, breast, or liver respectively. MOs predicted that 90%, 60%, 33%, and 20% of their pts would definitely/probably consider RPOBs of blood, skin, breast, or liver. 98% (95% CI 96%-100%), 96% (95% CI 92%-98%), 93% (95% CI 88%-96%) and 70% (95% CI 63%-77%) of MOs were very/somewhat comfortable asking pts for an AB of blood, skin, breast and liver respectively. 98% (95% CI 95%-99%), 93% (95% CI 89%-96%), 78% (95% CI 72%-84%) and 50% (95% CI 43%-58%) of MOs were very/somewhat comfortable asking pts to participate in a RPOB of blood, skin, breast and liver respectively. No demographic characteristics (eg. sex, age) were associated with MOs’ comfort levels of asking pts to have an AB of blood, skin and breast. Factors associated with increased comfort discussing an AB of the liver were: age < 50 years (p = 0.01), in practice for < 15 years (p = 0.01), ≥ 1 pt enrolled on clinical trials per month (p = 0.02), or having pts who had undergone bx for research in prior 3 months (p<0.01). MOs with ≥ 4 patients enrolled on clinical trials/month or whose pts had undergone research bx in the past 3 months were more likely to feel comfortable asking pts to have a RPOB of the breast (p<0.01; p<0.01) or liver (p = 0.03; p<0.01). The 3 most common reasons why MOs were reluctant to refer pts for participation in an AB include risk of a bx procedure (n = 128, 67%), pain/discomfort of a bx (n = 125, 65%), and logistical barriers (n = 42, 22%). These reasons are similar for RPOB; risk of a bx procedure, (n = 137, 72%), pain/discomfort of a bx (n = 134, 70%), and inconvenience to pt (time involved, travel, etc) (n = 58, 30%). Conclusions: Many MOs predict that the majority of their MBC pts will consider ABs of various organs. However, this decreases with RPOBs, particularly as the procedure becomes more invasive. More research is needed to understand factors that may influence MOs’ comfort levels asking pts to participate in such studies. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P4-19-01.