Search

Background: People with a DNA mismatch repair (MMR) gene mutation have a substantially elevated risk of colorectal cancer (CRC) but the modifiers of this risk are not well established. We investigated the association between dietary supplement intake and CRC risk for carriers.Methods: This study included 1966 (56% female) carriers of an MMR gene mutation (719 MLH1, 931 MSH2, 211 MSH6 and 105 PMS2) who were recruited from the USA, Canada, Australia and New Zealand into the Colon Cancer Family Registry between 1997 and 2012. Information on lifestyle factors including supplement intake was collected at the time of recruitment. Using Cox proportional hazards regression weighted to correct for ascertainment bias, we estimated hazard ratios (HRs) and 95% confidence intervals (CIs) for associations between self-reported multivitamin, calcium and folic acid supplement intake and CRC risk.Results: Of 744 carriers with CRC, 18%, 6% and 5% reported intake of multivitamin, calcium and folic acid supplements for at least 1 month, respectively, compared with 27%, 11% and 10% of 1222 carriers without CRC. After adjusting for identified confounding variables, a decreased CRC risk was associated with multivitam inintake for at least 3 years (HR 0.47, 95% CI 0.32-0.69) and calcium intake for at least 3 years(HR 0.42, 95% CI 0.23-0.74), compared with never users. There was no evidence of an association between folic acid supplement intake and CRC risk (P = 0.82).Conclusion: Intake of multivitamin and calcium supplements might be associated with a decreased risk of CRC for MMR gene mutation carriers. [ABSTRACT FROM AUTHOR]

Aim: The primary aim of the study is to define the post-colonoscopy colorectal cancer (PCCRC) three-year rate and the post-endoscopy upper gastrointestinal cancer (PEUGIC) three-year rate across public hospitals in Aotearoa New Zealand., Method: This retrospective cohort study will be conducted via the trainee-led STRATA Collaborative network. All public hospitals in Aotearoa New Zealand will be eligible to participate. Data will be collected on all adult patients who are diagnosed with colorectal adenocarcinoma within 6 to 48 months of a colonoscopy and all adult patients diagnosed with gastroesophageal cancer within 6 to 48 months of an upper gastrointestinal endoscopy. The study period will be from 2010 to 2022. The primary outcome is the PCCRC 3-year rate and the PEUGIC 3-year rate. Secondary aims are to define and characterize survival after PCCRC or PEUGIC, the cause of PCCRC as based on the World Endoscopy Organization System of Analysis definitions, trends over time, and centre level variation., Conclusion: This protocol describes the methodology for a nationwide retrospective cohort study on PCCRC and PEUGIC in Aotearoa New Zealand. These data will lay the foundation for future studies and quality improvement initiatives., (© 2024 The Author(s). Colorectal Disease published by John Wiley & Sons Ltd on behalf of Association of Coloproctology of Great Britain and Ireland.)

Objective: Evaluate the diagnostic performance of faecal immunochemical test (FIT), identify risk factors for FIT-interval colorectal cancers (FIT-IC) and describe long-term outcomes of participants with colorectal cancers (CRC) in the New Zealand Bowel Screening Pilot (BSP)., Design: From 2012 to 2017, the BSP offered eligible individuals, aged 50-74 years, biennial screening using a quantitative FIT with positivity threshold of 15 µg haemoglobin (Hb)/g faeces. Retrospective review of prospectively maintained data extracted from the BSP Register and New Zealand Cancer Registry identified any CRC reported in participants who returned a definitive FIT result. Further details were obtained from hospital records. FIT-ICs were primary CRC diagnosed within 24 months of a negative FIT. Factors associated with FIT-ICs were identified using logistic regression., Results: Of 387 215 individuals invited, 57.4% participated with 6.1% returning positive FIT results. Final analysis included 520 CRC, of which 111 (21.3%) met FIT-IC definition. Overall FIT sensitivity for CRC was 78.7% (95% CI=74.9% to 82.1%), specificity was 94.1% (95% CI=94.0% to 94.2%). In 78 (70.3%) participants with FIT-IC, faecal Hb was reported as undetectable. There were no significant associations between FIT-IC and age, sex, ethnicity and deprivation. FIT-ICs were significantly associated with proximal tumour location, late stage at diagnosis, high-grade tumour differentiation and subsequent round screens. Median follow-up time was 74 (2-124) months. FIT-IC had significantly poorer overall survival., Conclusion: FIT sensitivity in BSP compared favourably to published data. FIT-ICs were more likely to be proximal tumours with poor long-term outcomes. Further lowering of FIT threshold would have minimal impact on FIT-IC., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

New Zealand has one of the highest incidences of rectal cancer in the world, and its optimal management requires a multidisciplinary approach. A National Rectal Cancer Summit was convened in August 2013 to discuss management of rectal cancer in the New Zealand context, to highlight controversies and discuss domestic priorities for the future. This paper summarises the priorities for treatment, research and policy for rectal cancer services in New Zealand identified as part of the Summit in August. The following priorities were identified: - Access to high-quality information for service planning, review of outcomes, identification of inequities and gaps in provision, and quality improvement; - Engagement with the entire sector, including private providers; - Focus on equity; - Emerging technologies; - Harmonisation of best practice; - Importance of multidisciplinary team meetings. In conclusion, improvements in outcomes for patients with rectal cancer in New Zealand will require significant engagement between policy makers, providers, researchers, and patients in order to ensure equitable access to high quality treatment, and strategic incorporation of emerging technologies into clinical practice. A robust clinical information framework is required in order to facilitate monitoring of quality improvements and to ensure that equitable care is delivered.

We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population., (Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.)

Background: In accordance with the Bethesda Guidelines, Auckland's metropolitan hospitals routinely perform immunohistochemistry for mismatch repair proteins on the tumor specimens of all patients with colorectal cancer aged 50 years and younger. When loss of expression is evident, patients are offered genetic counseling and gene mutation analysis., Objectives: This study aimed to determine the completeness of young patient capture over the first 7 years of routine testing, to find whether patients were referred for genetic testing, and to determine the proportion of patients found to have a mismatch repair gene mutation., Design: This study retrospectively reviewed clinical, pathological, and genetic data., Settings: The study was conducted at 3 public hospitals in Auckland, New Zealand., Patients: All patients aged 50 years and younger treated for colorectal cancer at Auckland's metropolitan hospitals between January 2001 and December 2007 (n = 243) were included., Main Outcome Measures: The loss of expression of mismatch repair proteins by immunohistochemistry, referral for genetic testing, and proportion with mismatch repair gene mutation were the main outcome measures., Results: Two hundred fourteen (88%) eligible patients had immunohistochemical analysis of their tumor and 33 (14%) had loss of expression of one or more mismatch repair proteins. Twenty-six patients were referred for genetic counseling, of whom 22 underwent genetic testing. A mismatch repair gene mutation was identified in 10 patients., Limitations: Seven patients with loss of expression of mismatch repair proteins by immunohistochemistry were not referred for genetic assessment., Conclusions: We have identified a mismatch repair gene mutation diagnostic of hereditary nonpolyposis colorectal cancer in 5% of all patients with colorectal cancer who were aged 50 years and younger. Routine immunohistochemical prescreening has important clinical benefit for these patients and their relatives.

Background: New Zealand (NZ) has a high incidence of colorectal cancer (CRC). Maori have a documented incidence that is approximately half that found in NZ Europeans, possibly the result of under-reporting., Aim: To determine and compare the prevalence of colorectal adenomas in Maori and NZ European patients., Methods: Colonoscopy records from the Middlemore Colonoscopy Audit Database between 1 July 2001 and 31 December 2005 were reviewed. Studies performed for indications associated with an increased risk of colorectal polyps were excluded from the analysis. Patient demographics, including self-identified ethnicity, and number and location of colonic polyps were recorded. All polyp histology was reviewed., Results: Data was analysed from 2842 colonoscopies--2523 were NZ Europeans (mean age 67 yrs) and 319 were Maori patients (mean age 60.6 yrs). To adjust for age, a comparison of data between 40 and 59 years was undertaken. In 643 (81.2%) NZ Europeans, polyps were identified in 213 (33.1%). In the 149 (18.8%) Maori patients, polyps were identified in 35 (23.5%) p=0.029. The comparative rates of adenomas in NZ Europeans and Maori were 16.7% and 8.7% respectively (p=0.019; 8% difference, CI=2.3-13.9%)., Conclusion: The prevalence of colorectal adenomas in Maori is approximately half that found in NZ Europeans. This mirrors the reported difference in CRC incidence between these groups and lends support to this being a real finding and not a bias in the manner in which the data has been collected.

Background: Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain., Methods: We identified 113 families of MSH6 mutation carriers from five countries that we ascertained through family cancer clinics and population-based cancer registries. Mutation status, sex, age, and histories of cancer, polypectomy, and hysterectomy were sought from 3104 of their relatives. Age-specific cumulative risks for carriers and hazard ratios (HRs) for cancer risks of carriers, compared with those of the general population of the same country, were estimated by use of a modified segregation analysis with appropriate conditioning depending on ascertainment., Results: For MSH6 mutation carriers, the estimated cumulative risks to ages 70 and 80 years, respectively, were as follows: for colorectal cancer, 22% (95% confidence interval [CI] = 14% to 32%) and 44% (95% CI = 28% to 62%) for men and 10% (95% CI = 5% to 17%) and 20% (95% CI = 11% to 35%) for women; for endometrial cancer, 26% (95% CI = 18% to 36%) and 44% (95% CI = 30% to 58%); and for any cancer associated with Lynch syndrome, 24% (95% CI = 16% to 37%) and 47% (95% CI = 32% to 66%) for men and 40% (95% CI = 32% to 52%) and 65% (95% CI = 53% to 78%) for women. Compared with incidence for the general population, MSH6 mutation carriers had an eightfold increased incidence of colorectal cancer (HR = 7.6, 95% CI = 5.4 to 10.8), which was independent of sex and age. Women who were MSH6 mutation carriers had a 26-fold increased incidence of endometrial cancer (HR = 25.5, 95% CI = 16.8 to 38.7) and a sixfold increased incidence of other cancers associated with Lynch syndrome (HR = 6.0, 95% CI = 3.4 to 10.7)., Conclusion: We have obtained precise and accurate estimates of both absolute and relative cancer risks for MSH6 mutation carriers.

Aim: The hyperplastic polyposis syndrome (HPS) has been described in a subset of patients with multiple or large hyperplastic polyps. HPS is associated with an increased risk of colorectal cancer (CRC). In this report, we review the presentation and management of a series of individuals with HPS., Methods: From 2001, gastroenterologists, surgeons, and histopathologists at Middlemore Hospital were asked to report cases of HPS. Clinical records were retrospectively reviewed to confirm the number and size of polyps and the age at diagnosis, site of involvement in the colon, and nature of surgical procedures performed in cases with CRC., Results: HPS was identified in 24 patients: 14 females and 10 males. Though 46% of patients attending our gastroenterology department are non-Europeans, all HPS cases had European ancestry. A family history of CRC was identified in four patients (16.6%). All patients had small polyps (<5mm) however 15 (63%) had at least one polyp > or =10 mm, the largest being 45 mm. There were 21 CRCs in 14 patients with a mean age at diagnosis of 61 years. The tumour site was known in 19 CRC, and 16 of these (84%) occurred in the proximal colon. Synchronous cancers were identified in four patients and metachronous tumours in two patients. Twenty-two surgical procedures were performed in 17 patients. Three patients underwent prophylactic surgery due to polyp burden or dysplasia., Conclusion: HPS is rarely encountered but is associated with a significant risk of CRC and is found in the European component of the New Zealand population. Identification of this syndrome has implications regarding management and surveillance for both the individual patient and their first-degree relatives.

Aim: In 2005 the National Screening Unit of the Ministry of Health appointed a Colorectal Screening Advisory Group to provide independent strategic advice and recommendations on population screening for colorectal cancer (CRC) in New Zealand., Method: Evidence-based review of relevant literature and assessment of CRC screening using the New Zealand Criteria to Assess Screening Programmes., Results: Guaiac faecal occult blood test (FOBTg), immunochemical FOBT (FOBTi), flexible sigmoidoscopy, colonoscopy, and CT colonography were considered. FOBTg is the only test supported by high quality evidence from randomised controlled trials but has limited sensitivity and achieves modest CRC mortality reduction over time. FOBTi has higher analytical sensitivity than FOBTg and would be assumed to achieve greater mortality reduction. A CRC screening programme requires substantial planning and resources. Currently public hospitals cannot deliver timely diagnostic or surveillance colonoscopy., Conclusion: The Advisory Group recommends that a feasibility study of CRC screening using FOBTi be undertaken. This would help determine the performance of the FOBTi in the New Zealand population and whether the New Zealand health system could support an acceptable, effective and economically efficient CRC screening programme. To optimise the diagnosis and treatment of colorectal cancer there is an immediate need to expand colonoscopy services and to ensure that throughout New Zealand the treatment outcomes for CRC, both surgical and oncological, meet international standards.

Aims: The optimal management of familial bowel cancer is thought to involve specialised familial cancer units and registries that facilitate a multidisciplinary approach. We studied the impact this approach had on the investigation and management of affected families in our register., Method: A review of the outcomes of assessment for 25 families was undertaken. These families have completed assessment by the Northern Regional Genetic Service Familial Bowel Cancer Registry because of the possibility of a hereditary bowel cancer syndrome. Details of the cancer history and screening advice known at the time of initial referral to the genetic service, and at the end of assessment, were compared., Results: Detailed family history revealed 130 cancers, 90 of which were known at referral. Eighty-four cancers were confirmed, of which 73 belonged to the spectrum of cancers associated with hereditary nonpolyposis colorectal cancer (HNPCC). The mean age of diagnosis was 56.3 years. Eight families met the modified Amsterdam Criteria for the diagnosis of HNPCC, compared to four families at the time of referral. Familial hyperplastic polyposis was diagnosed in one family. 164 asymptomatic at-risk first-degree relatives were identified, 48 from families who met the Amsterdam criteria and were thereby recommended to have intensive colonoscopic screening., Conclusion: Assessment by the Familial Bowel Cancer Registry increased the number of cancers identified in families, thus facilitating a diagnosis of HNPCC in a third of the referred families and a diagnosis of hyperplastic polyposis in one other. Consequently specialised genetic testing and intensive colonoscopic surveillance could be targeted to the asymptomatic first-degree relatives most at risk. Ongoing coordination of colonoscopic surveillance by the registry for those individuals identified to have disease causing mutations or to be at-risk, is anticipated to reduce the number of deaths from colorectal cancer in these families.