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.

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.

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.

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

scholarly journals Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X

2012 ◽  
Vol 25 (8) ◽  
pp. 1055-1068 ◽  
Author(s):  
Chee-Seng Ku ◽  
David N Cooper ◽  
Mengchu Wu ◽  
Dimitrios H Roukos ◽  
Yudi Pawitan ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Exome Sequencing ◽  
Familial Cancer ◽  
Gene Discovery ◽  
Cancer Type ◽  
Familial Colorectal Cancer ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

scholarly journals The genetic and epigenetic landscape of early-onset colorectal cancer

2020 ◽  
Vol 9 (3) ◽  
pp. CRC23 ◽  
Author(s):  
C Richard Boland ◽  
Ajay Goel ◽  
Swati G Patel
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Familial Cancer ◽  
Genetic Alterations ◽  
Epigenetic Alterations ◽  
Epigenetic Landscape ◽  
Familial Cancer Syndromes ◽  
Epigenetic Signatures ◽  
Cancer Syndromes ◽  
Early Onset Colorectal Cancer

Colorectal cancer (CRC) in individuals under the age of 50 is a problem that is increasing in USA and around the world. In this review, we discuss the degree to which early-onset (EO)CRC may be due to unsuspected Lynch syndrome or other inherited germline variants that predispose to cancer, describe the known somatic genetic alterations in EO tumors and discuss alterations in DNA methylation. Approximately 20% of EOCRCs can be attributed to identifiable germline mutations in genes that cause familial cancer syndromes. A variety of other genetic/epigenetic alterations have also been reported. We conclude that this is a heterogeneous problem, that requires a comprehensive analysis of genetic/epigenetic signatures to better understand EOCRC. Various subsets of EOCRCs must be analyzed individually for clues regarding the etiologies and possible specific therapies for this disease.

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.

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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