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While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, polymerase proofreading associated polyposis and the recently described NTHL1-associated polyposis (NAP). NAP is characterised by recessive inheritance, attenuated adenomatous polyposis, colonic cancer(s) and possible extracolonic malignancies. To date, 11 cases have been reported as having germline homozygous or compound heterozygous mutations in the base excision repair gene NTHL1. Here we present a further case of a 65-year-old male with a history of adenomatous polyposis and bladder cancer, who has a previously described homozygous nonsense variant in the NTHL1 gene. This case is consistent with the emerging phenotype previously described of multiple colorectal adenomas and at least one primary tumour, adding to the small but growing body of literature about NAP.

We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.

To evaluate trends and associations surrounding patient referral to cancer genetics services in NSW. The specific aims of the questionnaire used to collect information were to: (1) quantify the types of cancers being referred, (2) identify the source of referral for the patients, (3) categorise the referral as being either sought by the patient or suggested by the doctor, (4) quantify how often family history was asked, (5) determine who first raised the topic of family history, (6) identify any discouragement faced by patients, (7) clarify the cancer status of patients referred. A comparative patient-reported study was carried out using a questionnaire as the data collection tool in structured short interviews. The questions were aimed at eliciting the patient's understanding of why they were referred to the clinic, whether family history was discussed at the time of referral and who raised the issue via a series of YES/NO and open response questions. Data were collected from March 2012 to August 2012 from two different clinics, St Vincent's Hereditary Cancer Clinic, Sydney and the Hunter Family Cancer Service, Newcastle-both in New South Wales, Australia. Written consent was obtained. The study found that specialists were responsible for the majority of the 150 referrals and were more likely to be proactive in referring, as opposed to GPs (Phi and Cramer's V test). Patients reported that at the time of referral their family history was not asked in 13.5 % of cases, despite being significant. In the 131 cases where family history was discussed, it was the patient on approximately 2 in 5 occasions that brought up the topic. The most common types of cancer seen were breast cancer and colorectal. At both services GP referrals were more common then specialist referrals. On three occasions patients sought referral after being notified that the bloods they had collected by their GP for genetic testing were held by the laboratory due to failure to follow protocol. Six patients reported being discouraged to attend when seeking a referral. At the time of referral 58.7 % of patients were considered to be without cancer. Overall, 20 % of patients requested their referral to the cancer genetics clinics. The discussion of family history in the context of familial cancer is key to accurate risk assessment and management advice. Further education of doctors is required as evidenced by the number of patients where family history was not asked and in those patients who had bloods collected by their GP without counselling.

We report a familial adenomatous polyposis patient with a known truncating mutation on exon 15 of the APC gene who developed an invasive follicular thyroid cancer in addition to multiple intra-cranial and spinal desmoids. This combination of manifestations has not previously been recorded in the literature.

The Hereditary Cancer Registers (HCR) offer registration to individuals at risk of hereditary bowel cancer. Most families are registered to the HCR via Familial Cancer Clinics (FCC)s. The FCCs work together with the HCR to inform family members that they may be at increased risk of hereditary bowel cancer. In 2002, The Hunter Family Cancer Service (HFCS) and the HCR developed a system to ensure at risk family members become informed of their risk. Evaluation of this system is presented. The system involves tracking which family members are informed of their risk using a rating system. Being informed is graded numerically, from 5 (not informed) through to 1(definitely informed). Changes in score are brought about through staff and the FCC and HCR working with registrants to contact at risk family members. This study analyses data collected for a subgroup of 21 families registered with the HCR by the HFCS. Baseline and resulting scores indicated whether the 738 at risk family members had become better informed of their risk. One hundred and sixty eight individuals changed to a score of "definitely informed" and 230 individuals score changed from "not informed" to being better informed. The results demonstrate significant change in these family members towards becoming better informed (z = -13.88, P < 0.0001, Wilcoxon signed ranks test). These data suggest that the system for informing family members of their risk has resulted in significant positive change towards these individuals becoming more informed. The system has the potential to reach over 2,800 at risk family members, of registered families, resulting in improved surveillance and better health outcomes.

Peutz-Jeghers syndrome is a rare genetic disorder characterized by mucocutaneous melanin deposition, intestinal polyposis and an increased risk of cancer, both intestinal and extra-intestinal. We describe the current status of diagnosis and the methods by which the consequences of this condition can be minimized. A surveillance program for those diagnosed is also included.