Needs assessment and utilization of an educational workshop and support group for Lynch syndrome patients.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12536-e12536
Author(s):  
Rohini Rau-Murthy ◽  
Christopher Anrig ◽  
Emily Glogowski ◽  
Erin E. Salo-Mullen ◽  
Megan Harlan Fleischut ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Lynch Syndrome ◽  
Needs Assessment ◽  
Support Group ◽  
Family Members ◽  
Cancer Surveillance ◽  
Prophylactic Surgery ◽  
Cancer Center ◽  
Lynch Syndrome Patient ◽  
Educational Workshop

e12536 Background: Lynch syndrome (LS) requires a lifelong commitment to multi-organ cancer surveillance and/or prophylactic surgery. Emotional and informational support for LS patients is not readily available. Through an LS Educational Workshop (LSEW) we assessed the need and interest in an educational and support group for LS families. Methods: LS patients identified at Memorial Sloan-Kettering Cancer Center (MSKCC) were sent LSEW invitations and a pre-workshop survey. All patients underwent prior genetic counseling. Though family members could attend, only index patients completed the surveys. All attendees were asked to complete both an evaluation of the LSEW and a needs assessment regarding implementation of a support group. Results: Invitations to 213 LS patients were mailed. Of 8 potential discussion topics, the most desired were chemoprevention and cancer screening recommendations. Thus, the 1st hour of the LSEW was a didactic session by physicians on these topics and LS research. The 2nd hour was a panel on patient experiences, family communication and Q&A. Fifty-three patients (25% of those invited) and 22 family members attended. The LSEW evaluation was completed by 26 index attendees, with 88% overall satisfied or extremely satisfied. Common requests for improvement were better division of informational and support aspects, and more Q&A. Of 23 who completed the needs assessment, 73% considered an LS support group as either somewhat or extremely useful. The group was equally divided on preference for a free-flow vs topic-focused approach; 57% felt a support group would have increased utility immediately after genetic testing. An in person venue was preferred by 87% over a virtual one, and 73% preferred every 3-6 month meetings. Respondents preferred a group inclusive of gender and cancer history. Based on this, the MSKCC Lynch Syndrome Patient Advocacy Network was created in 2012 with an in-person, every 4 month meeting facilitated by a social worker. Conclusions: Following genetic counseling, there is a continued need for informational sessions and support groups for LS patients/family members. Implementation of an in-person support group is feasible and responsive to the needs of our LS population.

scholarly journals Facebook Intervention for Young-Onset Melanoma Patients and Their Family Members: Pilot and Feasibility Study (Preprint)

2017 ◽  
Author(s):  
Elliot J Coups ◽  
Sharon L Manne ◽  
Sherry L Pagoto ◽  
Kevin R Criswell ◽  
James S Goydos
Keyword(s):  
Skin Cancer ◽  
Family Members ◽  
Sun Protection ◽  
Cancer Surveillance ◽  
Cancer Center ◽  
Cancer Risk Factors ◽  
Young Onset ◽  
Increased Risk ◽  
Intervention Content ◽  
Melanoma Patients

BACKGROUND Despite their elevated melanoma risk, young-onset melanoma patients and their families exhibit low rates of engagement in skin cancer surveillance and sun protection behaviors. Interventions that improve skin cancer surveillance (total cutaneous exam [TCE] and skin self-exam [SSE]) and prevention (sun protection) practices among young-onset patients and their family members would likely have an impact on skin cancer morbidity and mortality; however, such interventions are lacking. OBJECTIVE The objective of our study was to examine the development, feasibility, and preliminary impact of a family-focused Facebook intervention to increase engagement in TCE, SSE, and sun protection among young-onset melanoma patients and their families. METHODS In this study, 48 young-onset melanoma patients and their 40 family members completed measures of knowledge; beliefs; and TCE, SSE, and sun protection intentions before and 1 month after participating in 1 of 5 separate “secret” (ie, private) Facebook groups. The intervention content consisted of daily postings about skin cancer, skin cancer risk factors, TCE, SSE, and sun protection. RESULTS Patient and family member participation rates differed by recruitment setting, with acceptance rates ranging from 24.6% to 39.0% among families recruited from a cancer center setting and from 12.7% to 61.5% among families recruited from a state registry. Among the 5 consecutive groups conducted, engagement, as measured by comments and likes in response to postings, increased across the groups. In addition, participants positively evaluated the intervention content and approach. Preliminary analyses indicated increases in TCE, SSE, and sun protection intentions. CONCLUSIONS Our family-focused Facebook intervention showed promise as a potentially feasible and efficacious method to increase sun protection and skin cancer surveillance among individuals at increased risk for melanoma.

Genetic counseling and testing in endometrial cancer: Are we capturing high-risk women?

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1503-1503
Author(s):  
Jessica Lee ◽  
Lindsay Gubernick ◽  
Jing-Yi Chern ◽  
Deanna Gerber ◽  
Stephanie V. Blank ◽  
...  
Keyword(s):  
Risk Factors ◽  
Endometrial Cancer ◽  
Genetic Counseling ◽  
Family History ◽  
High Risk ◽  
Lynch Syndrome ◽  
Positive Family History ◽  
Family Members ◽  
Germline Mutations ◽  
High Risk Women

1503 Background: Lynch syndrome accounts for the majority of inherited endometrial cancers and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. This is now even more relevant with the potential of novel immunotherapy agents for women with germline mutations. The diagnosis of endometrial cancer (EC) can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates. Methods: All women with EC between 2012 and 2015 were identified. Statistical analyses were performed to evaluate risk factors including age, body mass index (BMI), positive family history defined as two or more family members with Lynch-related cancers, and tumor mismatch repair (MMR) protein expression loss. Results: A total of 447 women were diagnosed with EC and of these, 107 (24%) were given GCR by their gynecologic oncologist based on their discretion. Compared to non-GCR, GCR women were significantly younger (median 54 vs 65, p < 0.0001) and had lower BMI (median 28.2 vs 30.8, p= 0.007). Of the 107 GCR women, 71 (66%) underwent GT. Of the 71 GT women, 8 (11%) were found to have a germline mutation in one of the MMR genes. Table 1 lists GCR, GT and positive germline mutations among specific high-risk cohorts. Of these cohorts, 56% under 50 years of age, 28% with family history, and 61% with loss of tumor MMR proteins had GCR. Conclusions: Many young, thin EC women with a family history or a tumor MMR deficiency are not given GCR. Among GCR women, 66% underwent GT, despite there being a high rate of germline mutations among these women. It is imperative that high-risk women receive GCR with subsequent GT to capture the maximum number with Lynch syndrome to screen and prevent additional cancers as well as enable cascade testing in family members. Facilitated pathways may be helpful in increasing GCR, as well as GT in EC women. [Table: see text]

scholarly journals Educational and Psychosocial Support Needs in Lynch Syndrome: Implementation and Assessment of an Educational Workshop and Support Group

2016 ◽  
Vol 26 (2) ◽  
pp. 232-243 ◽  
Author(s):  
Marina J. Corines ◽  
Jada G. Hamilton ◽  
Emily Glogowski ◽  
Chris A. Anrig ◽  
Rachael Goldberg ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Support Group ◽  
Psychosocial Support ◽  
Support Needs ◽  
Educational Workshop

scholarly journals ”For mine børns skyld”: Affektiv cirkulation af risiko, ansvar og køn i BRCA genetisk udredning

2018 ◽  
Vol 14 (27) ◽  
Author(s):  
Anne Vestergaard Youssufi ◽  
Lotte Huniche
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Brca Mutation ◽  
Genetic Counselor ◽  
Family Members ◽  
Premature Death ◽  
Medical Genetics ◽  
Prophylactic Surgery ◽  
Life Threatening ◽  
And Gender

Genetisk udredning benyttes i stigende grad af raske mennesker, som er i risiko for at udvikle alvorlige eller livstruende sygdomme. Nogle tilfælde af brystkræft og kræft i æggestokke og æggeledere skyldes en mutation i et af de to BRCA-gener, som kan forårsage tidlig sygdom og død. Gennem interviews med kvinder, der er testet positive for en BRCA-mutation, og med en genetisk rådgiver udforsker artiklen, hvilken rolle den affektive cirkulation af risiko, ansvar og køn har i den genetiske rådgivningsproces og for valg af testning og profylaktisk kirurgi. Analysen viser, at frygt er en gennemgående følelse for kvinderne og deres familiemedlemmer både før, under og efter testning. For kvinder, og særligt  mødre, accelererer følelsen af frygt med deres egen og andres forventninger om, at de som kvinder skal være omsorgsfulde og beskyttende overfor deres familie. For at håndtere frygten hersker der konsensus om at gøre brug af de tilbud, som stilles til rådighed i den medicinsk genetiske kontekst. Der er en udbredt kulturel forestilling, om at man kan opnå viden om sine gener og træffe beslutninger på den baggrund, og en tendens til at opfatte genetisk testning og profylaktisk kirurgi som den ansvarlige måde for kvinder at håndtere risiko. Kønnede forestillinger om kvinders og mødres udvidede ansvar, lagt oveni den medicinske genetiks muligheder, virker gennem frygten disciplinerende på kvindernes valg af testning og profylaktisk kirurgi, også selvom det har omfattende negative konsekvenser for deres egne kroppe og liv. Det stiller særlige krav til genetiske rådgivere og sundhedsvæsnets tilbud på området. ”For my children’s sake”: affective circulation of risk, responsibility and gender in BRCA genetic counselingGenetic testing is increasingly used by healthy people who are at risk for developing serious or life threatening diseases. Some instances of breast and ovarian cancer are caused by a mutation in one of the two BRCA-genes and may cause early onset of disease and premature death. Based on interviews of women who have tested positive for a BRCA mutation, and a genetic counselor this article explores the role of affective circulation of risk, responsibility and gender in the processes and choices around genetic counseling, testing and prophylaxis. The analysis shows that for women and their relatives fear is integral to the entire process of genetic testing. For women, and particularly mothers, fear is exacerbated by the widespread culteral expectation that women ought to care for and protect family members. One way to handle that fear and to meet expectations in the context of medical genetics is making use of the available measures. The notion that you can know your genes and act upon genetic knowledge is a cultural given and works as a driver for perceiving genetic counseling, testing and prophylactic surgery as the more responsible way for women and mothers to manage risk. The gendered conception of extended responsibilities of women and mothers, coupled with the promises of medical genetics, may discipline women to undergo genetic testing and surgery for the sake of family members, particularly children, regardless of any adverse consequences for their own bodies and lives.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

scholarly journals Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

2008 ◽  
Vol 26 (35) ◽  
pp. 5783-5788 ◽  
Author(s):  
Heather Hampel ◽  
Wendy L. Frankel ◽  
Edward Martin ◽  
Mark Arnold ◽  
Karamjit Khanduja ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Cancer Surveillance ◽  
Study Cohort ◽  
Entire Study ◽  
Gene Testing ◽  
Revised Bethesda Guidelines ◽  
Repair Genes ◽  
Entire Study Cohort

Purpose Identifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups. Patients and Methods MSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed. Results Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations. Conclusion One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS.

scholarly journals Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer

2018 ◽  
Vol 10 (2) ◽  
pp. 337-346 ◽  
Author(s):  
Mary Kathleen Ladd ◽  
Beth N Peshkin ◽  
Leigha Senter ◽  
Shari Baldinger ◽  
Claudine Isaacs ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Cancer Risk ◽  
Prophylactic Surgery ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Affective Factors ◽  
Risk Reducing

Abstract Risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO) are increasingly used to reduce breast and ovarian cancer risk following BRCA1/BRCA2 testing. However, little is known about how genetic counseling influences decisions about these surgeries. Although previous studies have examined intentions prior to counseling, few have examined RRM and RRSO intentions in the critical window between genetic counseling and test result disclosure. Previous research has indicated that intentions at this time point predict subsequent uptake of surgery, suggesting that much decision-making has taken place prior to result disclosure. This period may be a critical time to better understand the drivers of prophylactic surgery intentions. The aim of this study was to examine predictors of RRM and RRSO intentions. We hypothesized that variables from the Health Belief Model would predict intentions, and we also examined the role of affective factors. Participants were 187 women, age 21–75, who received genetic counseling for hereditary breast and ovarian cancer. We utilized multiple logistic regression to identify independent predictors of intentions. 49.2% and 61.3% of participants reported intentions for RRM and RRSO, respectively. Variables associated with RRM intentions include: newly diagnosed with breast cancer (OR = 3.63, 95% CI = 1.20–11.04), perceived breast cancer risk (OR = 1.46, 95% CI = 1.17–1.81), perceived pros (OR = 1.79, 95% CI = 1.38–2.32) and cons of RRM (OR = 0.81, 95% CI = 0.65–0.996), and decision conflict (OR = 0.80, 95% CI = 0.66–0.98). Variables associated with RRSO intentions include: proband status (OR = 0.28, 95% CI = 0.09–0.89), perceived pros (OR = 1.35, 95% CI = 1.11–1.63) and cons of RRSO (OR = 0.72, 95% CI = 0.59–0.89), and ambiguity aversion (OR = 0.79, 95% CI = 0.65–0.95). These data provide support for the role of genetic counseling in fostering informed decisions about risk management, and suggest that the role of uncertainty should be explored further.

Prophylactic Surgery to Reduce the Risk of Gynecologic Cancers in the Lynch Syndrome

2006 ◽  
Vol 354 (3) ◽  
pp. 261-269 ◽  
Author(s):  
Kathleen M. Schmeler ◽  
Henry T. Lynch ◽  
Lee-may Chen ◽  
Mark F. Munsell ◽  
Pamela T. Soliman ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Prophylactic Surgery ◽  
Gynecologic Cancers

scholarly journals Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

2015 ◽  
Vol 33 (4) ◽  
pp. 319-325 ◽  
Author(s):  
Sanne W. ten Broeke ◽  
Richard M. Brohet ◽  
Carli M. Tops ◽  
Heleen M. van der Klift ◽  
Mary E. Velthuizen ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Lynch Syndrome ◽  
Family Members ◽  
Cumulative Risk ◽  
Mismatch Repair Gene ◽  
Genetic Modifiers ◽  
Analysis Model ◽  
Repair Gene ◽  
Mutation Carriers ◽  
Significant Difference

Purpose The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. Methods Data were collected from 98 PMS2 families ascertained from family cancer clinics that included a total of 2,548 family members and 377 proven mutation carriers. To adjust for potential ascertainment bias, a modified segregation analysis model was used to calculate colorectal cancer (CRC) and endometrial cancer (EC) risks. Standardized incidence ratios (SIRs) were calculated to estimate risks for other Lynch syndrome–associated cancers. Results The cumulative risk (CR) of CRC for male mutation carriers by age 70 years was 19%. The CR among female carriers was 11% for CRC and 12% for EC. The mean age of CRC development was 52 years, and there was a significant difference in mean age of CRC between the probands (mean, 47 years; range, 26 to 68 years) and other family members with a PMS2 mutation (mean, 58 years; range, 31 to 86 years; P < .001). Significant SIRs were observed for cancers of the small bowel, ovaries, breast, and renal pelvis. Conclusion CRC and EC risks were found to be markedly lower than those previously reported for the other MMR. However, these risks embody the isolated risk of carrying a PMS2 mutation, and it should be noted that we observed a substantial variation in cancer phenotype within and between families, suggesting the influence of genetic modifiers and lifestyle factors on cancer risks.

Hereditary Colorectal Cancer and Polyposis Syndromes

2021 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Juvenile Polyposis ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Peutz Jeghers Syndrome

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

Sign in / Sign up

Export Citation Format

Share Document