The role of nursing in obtaining a three-generation familial cancer history intake tool (FCHT) and the care of patients with hereditary gastrointestinal syndromes.

2014 ◽  
Vol 32 (30_suppl) ◽  
pp. 216-216
Author(s):  
Lucia Fontes-Borts ◽  
Howard Safran ◽  
Kimberly Perez
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Sex Education ◽  
Hereditary Cancer ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Increased Risk ◽  
Generation Family ◽  
Cancer Syndromes ◽  
The Impact

216 Background: Of patients diagnosed with colorectal cancer, 5-10% of all cancers are associated with hereditary cancer syndromes. Since hereditary gastrointestinal cancer syndromes convey a markedly increased risk for developing cancer, identification of affected families is important. Studies have found that clinicians are unlikely to adequately or routinely collect family history information on their patients. This study assessed the implementation of a validated three-generation family history intake tool by an advanced practiced nurse practitioner (APNP) and the impact on clinical practice at a mid-size academic affiliated Medical Oncology practice. Methods: From September 2013 to January 2014, 100 patients with the diagnosis of colorectal cancer were assessed after a clinic session with a physician by an APNP. The APNP utilized a validated 3 - generation family history tool. Information regarding age, sex, education, annual income, family ethnicity, diet, exercise and previous genetic testing was also collected. Data collected was then analyzed to assess risk of hereditary syndrome. A chart review of the patients was performed to analyze microsatellite instability testing and prior genetic counseling referrals. Results: Of the 100 screened, 93 patients were evaluable. There were 52 males: 39 female participants with a median age of 60.71 years (range 28-90). The implementation of FCHT was associated with an increase in identification of individuals at risk; 16 (17.2%) patients reported a diagnosis of CRC at age less than 50. The rate of referrals for genetic evaluation tripled after the implementation of the FCHT (6.5% to 16.3%). Of the 17 referred, five had been referred prior to implementation of the FCHT. Conclusions: Institution of a separate session with an APNP to assess family history resulted in a 3-fold increase in rates of detection of patients with high risk for hereditary cancer syndromes associated with colorectal cancer.This study demonstrates that APNP’s are well positioned to promote preventative health by engaging in family history intake and genetic assessment referral.

Familial cancer syndromes and genetic counselling

2016 ◽  
pp. 276-290
Author(s):  
Henry T. Lynch ◽  
Carrie L. Snyder ◽  
Jane F. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Molecular Genetics ◽  
Genetic Counselling ◽  
Hereditary Cancer ◽  
Genetic Model ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Clinical Genetic ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Thanks to the veritably logarithmic advances in the molecular genetics of many emerging hereditary cancer syndromes, genetic counselling has become of paramount importance. It is a key element of the emerging concepts for patient education and management, which have become the clinical bedrock for diagnosis and management of hereditary cancer. Genetic counsellors have become proficient in the understanding of the complexities of molecular genetics in relation to hereditary cancer syndromes, demonstrating their ability both to supplement and replace the customary physician’s role in this overall process. We have used colorectal cancer, in particular Lynch syndrome, as a clinical genetic model based on the authors’ experience with diagnosis, DNA testing, and counselling of thousands of families for over four decades. Undoubtedly, the surface of the proverbial iceberg has barely been grazed in regard to the developments for the genetic counseling discipline.

scholarly journals High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer

2015 ◽  
Vol 33 (31) ◽  
pp. 3544-3549 ◽  
Author(s):  
Maureen E. Mork ◽  
Y. Nancy You ◽  
Jun Ying ◽  
Sarah A. Bannon ◽  
Patrick M. Lynch ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Counseling ◽  
Family History ◽  
Hereditary Cancer ◽  
Hereditary Cancer Syndrome ◽  
Hereditary Cancer Syndromes ◽  
Cancer Syndrome ◽  
History Of ◽  
Cancer Syndromes ◽  
History Of Cancer

Purpose Established guidelines recommend evaluation for hereditary cancer syndromes in patients younger than 50 years diagnosed with colorectal cancer (CRC). This group has been well described in the literature; however, patients diagnosed as adolescents and young adults are not well represented in CRC studies. Here, we define the clinical profile, including the extent of hereditary cancer syndromes and family history of cancer, in patients diagnosed with CRC at age 35 or younger. Patients and Methods We reviewed patients who underwent genetic counseling at our institution during 5 years (2009 to 2013). Data were collected regarding demographics, clinicopathologic information, tumor and genetic testing, and family history. Patients with an identified hereditary cancer syndrome were compared with those without a syndrome. Results Of the 193 patients with evaluable data, 35% had an identifiable hereditary cancer syndrome, including 23 with Lynch syndrome, 22 with mutation-negative Lynch syndrome, 16 with familial adenomatous polyposis, two with constitutional mismatch repair deficiency, two with biallelic MUTYH mutations, and one with Li-Fraumeni syndrome. Patients without a hereditary syndrome more frequently presented with metastatic disease, whereas patients with a syndrome were more likely to present at earlier stages and to have a family history of cancer. Nevertheless, a substantial proportion of the hereditary syndromes (19%) were diagnosed in individuals with no family history of the disease. Conclusion We conclude that patients diagnosed with CRC at age 35 years or younger should receive genetic counseling regardless of their family history and phenotype.

Familial cancer syndromes

2016 ◽  
pp. 276-290
Author(s):  
Carrie L. Snyder ◽  
Heather Hampel ◽  
Henry T. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Genetic Counseling ◽  
Molecular Genetics ◽  
Hereditary Cancer ◽  
Genetic Model ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Clinical Genetic ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Thanks to the veritably logarithmic advances in the molecular genetics of many emerging hereditary cancer syndromes, genetic counselling has become of paramount importance. It is a key element of the emerging concepts for patient education and management, which have become the clinical bedrock for diagnosis and management of hereditary cancer. Genetic counsellors have become proficient in the understanding of the complexities of molecular genetics in relation to hereditary cancer syndromes, demonstrating their ability both to supplement and replace the customary physician’s role in this overall process. We have used colorectal cancer, in particular Lynch syndrome, as a clinical genetic model based on the authors’ experience with diagnosis, DNA testing, and counselling of thousands of families for over four decades. Undoubtedly, the surface of the proverbial iceberg has barely been grazed in regard to the developments for the genetic counseling discipline.

scholarly journals Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories

Oncology ◽  
2015 ◽  
Vol 89 (5) ◽  
pp. 288-293 ◽  
Author(s):  
Jennifer Saam ◽  
Christopher Arnell ◽  
Aaron Theisen ◽  
Kelsey Moyes ◽  
Ingrid Marino ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Cancer Syndromes

Screening interval recommendations following a normal colonoscopy in individuals with a familial risk of colorectal cancer

2018 ◽  
Vol 56 (04) ◽  
pp. 361-364 ◽  
Author(s):  
Jasper Plath ◽  
Andrea Siebenhofer ◽  
Corina Guethlin ◽  
Irina Blumenstein
Keyword(s):  
Colorectal Cancer ◽  
Clinical Practice ◽  
Familial Risk ◽  
Screening Colonoscopy ◽  
Hereditary Cancer Syndromes ◽  
Screening Interval ◽  
S3 Guideline ◽  
Increased Risk ◽  
Cancer Syndromes ◽  
Maximum Interval

Abstract Background In view of the increased risk of developing colorectal cancer (CRC) in individuals with affected first-degree relatives (FDRs), the German evidence-based S3 guideline recommends having the first screening colonoscopy early and then, following a normal examination, repeating it at least every 10 years. The aim of this analysis was to explore colonoscopy interval recommendations in clinical practice among individuals aged < 55 years with a familial risk of CRC. Methods We analyzed data from the FRIDA.Frankfurt study. Patients aged 40 – 54 years with at least 1 reported FDR with CRC (excluding suspected/known hereditary cancer syndromes) and a normal colonoscopy result (no findings) were included. Data on colonoscopist recommendations for intervals between subsequent colonoscopies were extracted from colonoscopy reports. Results Of 63 reports of normal colonoscopies, 20 (32 %) did not include a recommendation on when to undergo a further colonoscopy. Of 43 reports with recommendations, 40 (93 %) suggested an interval that was shorter than the recommended maximum interval in the guideline: 1 (2 %) was for a 3-year interval, 37 (86 %) were for 5-year intervals, and 2 (5 %) were for 8-year intervals. Conclusions Although the low number of cases limits generalizability, the results indicate that recommended intervals in clinical practice are considerably shorter than the recommended maximum interval in the guideline.

Hereditary Cancer Syndromes

2001 ◽  
Vol 125 (1) ◽  
pp. 85-90 ◽  
Author(s):  
Thomas S. Frank
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Medical Management ◽  
Hereditary Cancer Syndromes ◽  
Management Options ◽  
Biological Basis ◽  
Inherited Susceptibility ◽  
Increased Risk ◽  
Endocrine Organs ◽  
Cancer Syndromes

Abstract Objective.—To summarize the biological basis, clinical implications, identification, and medical management of syndromes associated with increased risk of common adult cancers. Data Sources.—Recent studies and data available from molecular and clinical analysis of genes responsible for autosomal-dominant inheritance of cancer risk. Data Synthesis.—Several hereditary cancer syndromes have been identified for which there are increasingly effective diagnostic and management options. Specific hereditary susceptibility syndromes have been characterized that increase the risk of malignancies of the breast, ovary, colon, endometrium, and endocrine organs. Following a summary of the biological basis of hereditary cancer risk in adults, the identification of such syndromes by clinical and laboratory means is reviewed. Finally, management options for individuals with these syndromes are summarized. Conclusions.—Advances in gene discovery have allowed the diagnosis of recently characterized hereditary cancer syndromes to enhance medical management for individuals with inherited susceptibility to common cancers.

scholarly journals Clinical actionability of universal sequencing for germline cancer susceptibility gene mutations among patients with colorectal cancer: A prospective study.

2019 ◽  
Vol 5 (suppl) ◽  
pp. 63-63
Author(s):  
Wu Jiang ◽  
Peirong Ding
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Germline Mutations ◽  
Hereditary Cancer Syndromes ◽  
Tailored Treatment ◽  
History Of ◽  
Cancer Susceptibility Gene ◽  
Cancer Syndromes

63 Background: Genetic predisposition is an important cause of colorectal cancer (CRC). Previous studies have demonstrated that universal sequencing in unselected CRC patients with multi-gene panel could detect more hereditary cancer syndromes. However, it is unclear whether this strategy would change clinical management for the affected individuals. Methods: We prospectively enrolled a consecutive cohort of 486 CRC patients, comprising of unselective patients aged no more than 70 years and patients older than 70 years with hereditary risk features. All participants received germline testing using a comprehensive panel of 81 genes associated with various hereditary cancer syndromes. Results: Fifty-two pathogenic or likely pathogenic mutations were discovered in 51 (10.5%, 51/486) patients, including 20 (4.1%) Lynch syndrome, 11 (4.1%) germline mutations with known CRC risk, and 20 (4.1%) in other cancer susceptibility genes not traditionally associated with CRC. Among them, 21 (4.3%) mutation-positive patients would have been left undiagnosed if they only adhered to present guidelines. Nearly seventy percent (36/51) of the mutation-positive patients were found to carry clinicalactionable germline mutations, for whom enhanced screening and/or tailored treatment was recommended.CRC location, multiple CRC diagnoses, personal history of malignancy, or family history of malignancy was not significantly related to the presence of a mutation in non-CRC susceptibility genes. Conclusions: Universal germline sequencing for cancer susceptibility gene among CRC patients substantially identified more individuals with hereditary cancer syndrome and actionable germline mutations, and these patients might benefit from enhanced surveillance and better tailored treatment. Clinical trial information: NCT03365986.

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