Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Familial Cancer
Published in: Familial Cancer 2/2017

01-04-2017 | Original Article

Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency

Authors: Lior H. Katz, Shailesh Advani, Allison M. Burton-Chase, Bryan Fellman, Katrina M. Polivka, Ying Yuan, Patrick M. Lynch, Susan K. Peterson

Published in: Familial Cancer | Issue 2/2017

Login to get access

Abstract

Communication gaps in families with unexplained mismatch repair (MMR) deficiency (UMMRD) could negatively impact the screening behaviors of relatives of individual with UMMRD. We evaluated cancer risk perception, screening behaviors, and family communication among relatives of colorectal cancer (CRC) patients with UMMRD. Fifty-one family members of 17 probands with UMMRD completed a questionnaire about cancer risk perception, adherence to Lynch syndrome (LS) screening recommendations, and communication with relatives. Clinical data about the probands were obtained from medical records. Thirty-eight participants (78%) were worried from having cancer and twenty-one participants (42%) had undergone colonoscopy in the past 2 years, as recommended for LS families. In terms of screening for extracolonic cancers, only two eligible participants (3.9%) were screened for gastric, endometrial (10.0%), and ovarian (9.5%) cancers. Additionally, 5 participants (10%) underwent genetic counseling. Most participants were not told by anyone to be screened for extracolonic cancers (84, 85, and 95% for gastric, ovarian, and endometrial cancers, respectively). A minority of family members of CRC patients with UMMRD follow cancer screening as recommended for LS families. Health care providers should encourage patients with UMMRD to share information on LS-related cancers screening, especially extracolonic cancers, with their relatives.
Literature
1.
Levin B, Lieberman DA, McFarland B, American Cancer Society Colorectal Cancer Advisory Group, US Multi-Society Task Force, American College of Radiology Colon Cancer Committee et al (2008) Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin 58:130–160CrossRefPubMed
2.
Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76:1–18CrossRefPubMedPubMedCentral
3.
Kohlmann W, Gruber SB Lynch syndrome. 2004 Feb 05 [updated 2014 May 22]. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews [online]. University of Washington, Seattle, 1993–2014
4.
5.
6.
Vasen HF, Blanco I, Aktan-Collan K et al (2013) Mallorca group. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62:812–823CrossRefPubMedPubMedCentral
7.
Giardiello FM, Allen JI, Axilbund JE et al (2014) US Multi-Society Task Force on Colorectal Cancer. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology 147:502–526CrossRefPubMed
8.
Rodríguez-Soler M, Pérez-Carbonell L, Guarinos C et al (2013) Risk of cancer in cases of suspected Lynch syndrome without germline mutation. Gastroenterology 144:926–932CrossRefPubMed
9.
10.
11.
Sourrouille I, Coulet F, Lefevre JH et al (2013) Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors. Fam Cancer 12:27–33CrossRefPubMed
12.
Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA et al (2014) Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology 146:643–646CrossRefPubMed
13.
Haraldsdottir S, Hampel H, Tomsic J et al (2014) Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 147:1308–1316CrossRefPubMedPubMedCentral
14.
Castillejo A, Vargas G, Castillejo MI et al (2014) Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. Eur J Cancer 50:2241–2250CrossRefPubMed
15.
Mas-Moya J, Dudley B, Brand RE et al (2015) Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome. Hum Pathol 46:1616–1625CrossRefPubMed
16.
Stoffel EM, Mercado RC, Kohlmann W et al (2010) Prevalence and predictors of appropriate colorectal cancer screening in Lynch syndrome. Am J Gastroenterol 105:1851–1860CrossRefPubMedPubMedCentral
17.
Ersig AL, Hadley DW, Koehly LM (2011) Understanding patterns of health communication in families at risk for hereditary nonpolyposis colorectal cancer: examining the effect of conclusive versus indeterminate genetic test results. Health Commun 26:587–594CrossRefPubMedPubMedCentral
18.
Lerman C, Trock B, Rimer BK, Boyce A, Jepson C, Engstrom PF (1991) Psychological and behavioral implications of abnormal mammograms. Ann Intern Med 114:657–661CrossRefPubMed
19.
Katz LH, Burton-Chase AM, Advani S et al (2016) Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome. Clin Genet 89:392–398CrossRefPubMed
20.
Schroy PC III, Barrison AF, Ling BS, Wilson S, Geller AC (2002) Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. Am J Gastroenterol 97:1031–1036CrossRefPubMed
21.
Batra S, Valdimarsdottir H, McGovern M, Itzkowitz S, Brown K (2002) Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology. Am J Gastroenterol 97:729–733CrossRefPubMed
22.
Burton-Chase AM, Hovick SR, Sun CC et al (2014) Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome. Clin Genet 86:185–189CrossRefPubMed
23.
Grover S, Stoffel EM, Mercado RC et al (2009) Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome. J Clin Oncol 27:3981–3986CrossRefPubMedPubMedCentral
24.
Pentz RD, Peterson SK, Watts B et al (2005) Hereditary nonpolyposis colorectal cancer family members’ perceptions about the duty to inform and health professionals’ role in disseminating genetic information. Genet Test 9:261–268CrossRefPubMedPubMedCentral
25.
Hadley DW, Jenkins JF, Steinberg SM et al (2008) Perceptions of cancer risks and predictors of colon and endometrial cancer screening in women undergoing genetic testing for Lynch syndrome. J Clin Oncol 26:948–954CrossRefPubMed
Metadata
Title
Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency
Authors
Lior H. Katz
Shailesh Advani
Allison M. Burton-Chase
Bryan Fellman
Katrina M. Polivka
Ying Yuan
Patrick M. Lynch
Susan K. Peterson
Publication date
01-04-2017
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 2/2017
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-016-9947-8

Other articles of this Issue 2/2017

Familial Cancer 2/2017 Go to the issue

Original Article

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Short Communication

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

Original Article

Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome

Short Communication

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer

Original Article

Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores

Original Article

Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits