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Susan Parry

Publications and source records attributed to Susan Parry.

5 recordsLinked to original sources
PubMed2006

Confirming a diagnosis of hereditary colorectal cancer: the impact of a Familial Bowel Cancer Registry in New Zealand.

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.

Age of Onset↗
PubMed2006

Hereditary diffuse gastric cancer: diagnosis and management.

Hereditary diffuse gastric cancer (HDGC) is a familial cancer syndrome defined by germline mutation of the E-cadherin gene (CDH-1). The cumulative risk for advanced gastric cancer in HDGC is 67% in men and 83% in women by 80 years of age. Early HDGC is characterized by multiple microscopic foci of intramucosal signet-ring cell carcinoma. The time to progression of these foci appears to be variable and currently is not predictable--the carcinoma foci may remain confined to the mucosa for many years. The management options for mutation carriers include prophylactic gastrectomy or surveillance gastroscopy. The only extensive published surveillance experience used chromogastroscopy, which detected early HDGC foci not visible on white-light endoscopy. The use of new techniques such as confocal microscopy, spectroscopy, or autofluorescence may prove useful, but have not been studied in HDGC. In patients up to 20 years of age, the risk for gastric cancer is less than 1%; this risk is outweighed by the mortality and morbidity associated with total gastrectomy. It is therefore recommended that genetic testing should occur at 16 years of age and that annual surveillance chromogastroscopy also should begin at age 16 in identified CDH-1 mutation carriers. After 20 years of age, delaying prophylactic gastrectomy carries significant risk, particularly if the alternative is surveillance by white-light gastroscopy. Surveillance chromogastroscopy (Congo red/methylene blue technique) should be considered for individuals younger than 20 years and patients unwilling to undergo prophylactic gastrectomy. Sufficient evidence for an increased risk for lobular breast cancer in CDH-1 carriers exists to justify breast screening in female carriers older than 35 years of age, however, evidence is insufficient to recommend prophylactic mastectomy.

Cadherins↗
PubMed2002

Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.

Hereditary diffuse gastric cancer (HDGC) is a recently defined cancer syndrome caused by inactivating, heterozygous germline mutations in the gene for the cell-to-cell adhesion protein E-cadherin (CDH1). Here, we describe the search for CDH1 mutations in 10 newly identified gastric cancer families. Seven of 10 families met the clinical criteria for HDGC. Germline mutations were identified in four of these seven families and one family that was borderline for the clinical criteria. Of the mutations identified in the five new families, four were previously unreported and consisted of two frameshift and two donor splice site mutations. One splice site mutation occurred at the 100% conserved +1 position. The second splice site mutation occurred at the +5 position and was shown to lead to abnormal splicing. Additional CDH1 variants detected include the heterozygous -160 C-->A promoter polymorphism, which has previously been reported to be associated with decreased CDH1 transcription. We, however, found this polymorphism to be common in a control population, suggesting that a major role for this polymorphism in gastric cancer susceptibility is unlikely.

Adult↗