General Hereditary Cancer Syndrome Triage Tool
Red Flags to identify those with risk of a Hereditary Cancer Syndrome most likely to benefit from a referral to genetics.
General risk assessment for Hereditary Cancer Syndrome point of care tool
Hereditary Breast and Ovarian Cancer Syndrome (BRCA1/BRCA2)
Hereditary breast and ovarian cancer referral screening tool to identify patients most likely to benefit from referral to genetics. Links to your provincial breast screening program can be found here.
This point of care tool has two parts. Part I of this tool is used to predict which individuals should be referred for genetic counselling due to increased risk for a hereditary breast cancer syndrome including but not limited to hereditary breast and ovarian cancer (HBOC) syndrome caused by mutations in BRCA1 and BRCA2 genes. Part II of this tool is used to identify individuals who are at high risk to carry a mutation in BRCA1 or BRCA2 genes.
Breast cancer is relatively common in the general population (12% lifetime risk) and the majority of cases occur sporadically. About 5-10% of breast cancer is due to an inherited gene change. Mutations in the genes BRCA1 or BRCA2 are the most common cause of hereditary breast and ovarian cancer (HBOC) and BRCA1 and BRCA2 mutation carriers have a significant increased lifetime risk for breast and ovarian cancer in addition to other cancers. Risk-reducing surgeries and, for some women, chemoprevention, can reduce mortality from breast and ovarian cancers in both BRCA1 and BRCA2 carriers. Individuals with family histories of breast or ovarian cancer that are at high risk (generally >10%) to carry a BRCA1 or BRCA2 gene mutation can be offered referral to genetics services for a discussion of the benefits, harms and limitations of genetic testing, while women whose family histories suggest a low risk of carrying a BRCA1 or BRCA2 gene mutation can be reassured and offered screening following provincial guidelines. (For more information see the comprehensive GEC-KO Messenger or the concise GEC-KO on the run)
Red Flags to identify those at high risk of Lynch Syndrome most likely to benefit from a referral to genetics.
This point of care tool has two parts. The first part contains three questions for your patient that will better help you stratify his/her risk for hereditary colorectal cancer and to identify those that would benefit from a referral for genetics consultation. The cumulative sensitivity of these three questions in identifying patients with characteristics suggestive of the hereditary colorectal cancer syndrome, Lynch syndrome (LS), and those who should undergo a more extensive risk assessment is 77%. When all 3 questions are answered “yes,” the tool correctly identifies 95% of individuals with germline mutations causing LS.1 If a patient answers “yes” to all of these questions a referral to genetics should be offered. If a patient answers “yes” to any of these questions, consider further assessment using the criteria in Part II. Part II contains further personal and family history Red Flags to identify those at high risk of LS most likely to benefit from a referral to genetics. These red flags are derived from the Amsterdam criteria [with 22% sensitivity and 98% specificity for LS] and the revised Bethesda criteria [with a 82% sensitivity and 77% specificity for LS].2
 Kastrinos F, Allen JI, Stockwell DH, et al., Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol 2009; 104: 1508–1518.
 Giardiello FM, Allen JI, Axilbund JE et al., Guidelines on genetic evaluation and management of Lynch syndreom: A consensus by the US multi-society task force on colorectal cancer. Dis Colon Rectum 2014; 57: 1025–1048
Lynch syndrome (LS), also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is the most common hereditary colorectal (CRC) cancer predisposition syndrome. It is an autosomal dominant condition that causes a significant increased lifetime risk of CRC and endometrial (uterine) cancer in addition to other cancers. Individuals suspected of having LS should be referred for a genetic consultation for consideration of genetic testing. Screening, surveillance and management of CRC and other cancers should be guided by genetic test results and/or family/ personal history. Studies show that conversations between patients and their healthcare providers are the strongest driver of screening participation. (For more information see the GEC-KO Messenger).
Hereditary Renal Cell Cancers
Canadian guidelines were recently published to facilitate healthcare providers’ identification of patients who may have a hereditary renal cell cancer (RCC) syndrome and could benefit from referral for genetic consultation. These guidelines were developed for use without the need of extensive knowledge of each RCC syndrome.
The criteria refer to the most common hereditary renal tumour syndromes and do not represent a comprehensive or exclusive list. Prospective validation of the criteria is warranted. The Kidney Cancer Research Network of Canada Genetics Initiative will review the guideline at least every 2 years.
Below is a triage card that can be downloaded and used in practice.
Hereditary Renal Cell Cancer triage point of care tool: Practical guide to identify those patients most likely to benefit from referral to genetics
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE and Kidney Cancer Research Network of Canada. Canadian guideline on genetic screening for hereditary renal cell cancers. Can Urol Assoc J 2013; 7(9-10): 319-23