Familial Cancer最新文献

{"title":"Mental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review.","authors":"Sophie Walton Bernstedt, Anna Jervaeus, Veronica Höiom, Kaisa Fritzell","doi":"10.1007/s10689-026-00537-4","DOIUrl":"10.1007/s10689-026-00537-4","url":null,"abstract":"<p><p>Polyposis syndromes are associated with an increased lifelong cancer risk in several organs as well as a commitment to regular examinations and risk-reducing surgery of healthy organs, which can be compared to living with a constant health threat. More recently conducted research on the topic is scarce, and, therefore, this scoping review synthesized data of existing research on mental and physical health and general well-being from the patients’ perspectives. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) was used. The search was conducted between January 2000 and October 2024, leading to the identification of 4138 studies. Of those, 39 studies met the inclusion criteria (1%), and of the 2214 included participants, 2108 had familial adenomatous polyposis. In order to analyze and synthesize relevant data, aspects of directed content analysis were applied. The findings show that patients exhibited mental and physical health in parity to population norms. However, feelings of vulnerability, anxiety, worry and fear, especially in younger participants were reported. In addition, decreased bowel and sexual function, food restrictions, body dissatisfaction, and physical attractiveness were evident. Regarding well-being, an altered lifestyle, work and social discrimination, insurance matters, concerns for family members and fertility were reported. Being female seemed to be related to mental health issues or vulnerability thereof. Appropriate screening tools, such as patient reported outcome measures (PROM), should be developed and implemented in a structured way to capture patients needs in clinical settings. Future research is needed for the rarer syndromes, represented to a limited extent in this review.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"20"},"PeriodicalIF":2.1,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146194503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single institution assessment of physician compliance and patient uptake with guideline directed aspirin therapy in the prevention of colorectal cancer in lynch syndrome.","authors":"Alexandra Yudiski, Heather Rocha, Edward Liu, Matthew Dzeda, Olivia Granja, Nicholas Haynes, Hannah Woolley, Shane Conklin, Gabrielle Shermanski, Amanda Leicht, Thomas Morland, Kathie Wu, Bradley Confer","doi":"10.1007/s10689-026-00533-8","DOIUrl":"10.1007/s10689-026-00533-8","url":null,"abstract":"<p><p>Patients with Lynch syndrome (LS) have been shown to have up to an 60% lifetime risk of developing colorectal cancer. The National Comprehensive Cancer Network (NCCN) guidelines recommend LS patients consider taking aspirin (ASA) daily to reduce their risk of colorectal cancer, which is primarily based on the Cancer Prevention Project 2 (CAPP-2) study results. In this study, we evaluated the uptake of guideline directed aspirin therapy among LS patients at Geisinger Inherited Risk Gastrointestinal clinic (IRGI). Medical records of 177 patients were retrospectively reviewed from May 2016 to December 2022. After excluding those with missing data or lost to follow-up, our study cohort consisted of 167 patients. Demographics, affected genes, clinical history, and ASA use were collected. Chi-square test and unpaired T-test were used to evaluate the association between various parameters and ASA use. With a median annual follow up of 36 months and adjustment for patients with relative and absolute contraindications to ASA, 58.5% (83/142) of patients were compliant with ASA therapy. Nearly half 49.4% (41/83) of ASA users took 81 mg daily, 1.2% (1/83) took 250 mg daily, 42.2% (35/83) took 325 mg daily and only 7.2% (6/83) reported taking > 600 mg daily. Relatively older patients were significantly more likely to take ASA compared to those not taking ASA (p-value = 0.025). The success of guideline focused discussion in encouragement of daily ASA use as primary prophylaxis in colorectal cancer amongst LS patients is likely multifactorial and beyond absolute medical contraindications.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"19"},"PeriodicalIF":2.1,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.","authors":"Yuki Kasahara, Masanobu Takahashi, Yoshifumi Kawamura, Yoko Aoki, Tetsuya Niihori, Maako Kawamura, Shinnosuke Yamamoto, Hidekazu Shirota, Ken Saijo, Hiroo Imai, Keigo Komine, Kota Ouchi, Sakura Taniguchi, Yuya Yoshida, Ryunosuke Numakura, Shiori Ishikawa, Tomoaki Shirakawa, Ryo Saito, Chikashi Ishioka, Hisato Kawakami","doi":"10.1007/s10689-026-00529-4","DOIUrl":"10.1007/s10689-026-00529-4","url":null,"abstract":"<p><p>Li-Fraumeni syndrome (LFS) is a hereditary cancer-predisposing disorder caused by germline pathogenic variants in the TP53 gene. Attenuated LFS represents a clinically milder form characterized by lower penetrance and later tumor onset, evading standard diagnostic criteria. We report a case of a 36-year-old Japanese woman who presented with hematochezia and was diagnosed with metastatic rectal adenocarcinoma. After failure of the first- to third-line chemotherapies, plasma-based comprehensive genomic profiling (CGP) was performed. The assay revealed a TP53 p.R181H variant (allele frequency: 0.512), KRAS p.G12D variant, PIK3CA p.E545K variant, and a CTNNB1 splicing variant. Family history included multiple gastrointestinal and hematological malignancies in first- and second-degree relatives. Germline testing confirmed heterozygosity of TP53 p.R181H, a temperature-sensitive variant suggested to have reduced penetrance. Notably, this variant is relatively common in European populations but rare in East Asian cohorts. To the best of our knowledge, this is the first reported East Asian case of attenuated LFS associated with the TP53 p.R181H variant. This case underscores the broader phenotypic spectrum of LFS. With the growing use of CGP, LFS may be identified more frequently in East Asia, potentially revealing attenuated LFS missed by traditional diagnostic criteria.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"18"},"PeriodicalIF":2.1,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146112755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers.","authors":"Daniel D Buchanan, Rocio Alvarez, Khalid Mahmood, Mark Clendenning, Peter Georgeson, Romy Walker, Julia Como, Susan G Preston, Sharelle Joseland, Kimia Mohammadsaeedi, Francesca Aguirre, Lisa Zhou, Dennis J Hazelett, Mark A Jenkins, Christophe Rosty, Ingrid M Winship, Finlay A Macrae, Tanya M Dwarte, Dawn Nixon, Megan P Hitchins, Jihoon E Joo","doi":"10.1007/s10689-025-00519-y","DOIUrl":"10.1007/s10689-025-00519-y","url":null,"abstract":"<p><p>The germline MLH1 c.-42 C > T (rs41285097) promoter variant has been identified in cases with MLH1-deficient colorectal or endometrial cancers but remains a variant of uncertain significance. Genetic testing identified two new MLH1 c.-42 C > T index cases from Australia and the USA. Clinicopathologic and molecular characterisation of tumour and non-neoplastic tissues was performed to investigate the potential mechanism of pathogenesis of this variant. The male Australian proband developed MLH1-deficient, BRAF p.V600 wildtype, CIMP-negative colon cancer at 61 years. MLH1 monoallelic methylation and a somatic pathogenic mutation, MLH1 c.1122_1126dup p.Asp376Valfs*27, were identified in his tumour. Droplet digital PCR (ddPCR) detected mosaic MLH1 methylation in normal colonic mucosa adjacent to the cancer (3.7%) with lower levels in blood (0.07%) and saliva (0.09%). The USA proband developed MLH1-deficient endometrial cancer at 38 years with MLH1 monoallelic methylation and loss-of-heterozygosity of the wildtype c.-42 C allele. No evidence of MLH1 methylation was found by ddPCR in normal tissues. MLH1 c.-42 C > T heterozygous relatives from both families had either no or extremely low levels of MLH1 methylation within blood or saliva. Allelic expression from MLH1 c.-42T was reduced to 70% relative to the wild-type allele in saliva from three heterozygotes. Three additional pedigrees were identified from the Colon Cancer Family Registry. Evaluation of combined multifactorial data from pooled informative index cases supports reclassification of this variant as “likely pathogenic” according to current ACMG/AMP mismatch repair gene-specific guidelines, though with likely reduced penetrance and/or modified phenotype. These findings highlight the clinical importance of identifying MLH1 c.-42 C > T to inform cancer risk management.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"17"},"PeriodicalIF":2.1,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12860845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary ovarian cancer in women with African ancestry: a scoping review.","authors":"Bianca Rossouw, Monica Araujo, Amanda Krause, Fiona Baine-Savanhu","doi":"10.1007/s10689-026-00530-x","DOIUrl":"10.1007/s10689-026-00530-x","url":null,"abstract":"<p><p>This scoping review explored genetic variants associated with hereditary ovarian cancer in women of African ancestry. Around 20% of ovarian cancers are hereditary, with BRCA1 and BRCA2 variants accounting for 20–55% of these cases, while other implicated genes include BRIP1, ATM, RAD51C, RAD51D, and the Lynch syndrome genes. The genetic basis of ovarian cancer in women of African ancestry, however, remains poorly understood. Accurate diagnosis of hereditary cancer syndromes is crucial given their personal and familial implications, informing patient management, surveillance, and cascade testing for at-risk relatives. Eligible studies included women of African ancestry with confirmed primary ovarian, peritoneal, or fallopian tube cancer who underwent germline genetic testing for hereditary cancer syndromes. Studies based solely on somatic testing or genome-wide association approaches were excluded. A comprehensive search of PubMed, Scopus, Web of Science, Google Scholar, and ProQuest Dissertations and Theses Global was conducted. Two reviewers independently screened citations and extracted data using a standardized form, and results were summarised narratively and in tables according to JBI scoping review guidelines. Thirty studies were included, primarily involving African American and North African participants. Only four focused specifically on hereditary ovarian cancer; the remainder primarily examined breast cancer cohorts with some ovarian cancer cases. Across these studies, 75 pathogenic variants were identified in 110 families, with 92% in BRCA1 or BRCA2. Research on hereditary ovarian cancer in women with African ancestry remains extremely limited, highlighting the urgent need for broader next-generation sequencing studies to inform clinical care.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"16"},"PeriodicalIF":2.1,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12860814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A history of the collaborative group of the Americas on inherited gastrointestinal cancer (CGA-IGC): 1995-2025.","authors":"Beth Dudley, Bruce M Boman, Marc S Greenblatt, Steven H Erdman, Paul E Wise, Randall E Brand, Carol A Burke, Jose G Guillem, Michael J Hall, Heather Hampel, Brandie Heald, Matthew F Kalady, Bryson W Katona, Sonia S Kupfer, Patrick M Lynch, Swati G Patel, Peter P Stanich, Elena M Stoffel, Matthew B Yurgelun, James Church","doi":"10.1007/s10689-026-00531-w","DOIUrl":"10.1007/s10689-026-00531-w","url":null,"abstract":"<p><p>The Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC) was created in 1995, when a small group of clinicians and researchers interested in improving the understanding of hereditary gastrointestinal (GI) cancer syndromes met in St. Louis. The organization was modeled after similar societies being formed internationally, with the goals of addressing uniquely American aspects of the healthcare of patients, providing opportunities for interested institutions and individuals to collaborate on studies, and facilitating affordable and accessible meetings. Over the subsequent 30 years, CGA-IGC has grown in size and scope. The organization was formally established in 1996 and annual academic meetings began in 1997, at which time the organization's name was the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC). Milestones included the organization's first strategic plan in 2010, the hiring of outside administrative management in 2014, and the creation of working committees in 2017. These decisions led to progressive growth of the organization, allowing for provision of year-round educational opportunities and increased member engagement. Given the recognition that the hereditary syndromes of interest to this group involve all parts of the gastrointestinal tract, the organization's name was changed from Collaborative Group of the Americas on Inherited Colorectal Cancer to Collaborative Group of the Americas on Inherited Gastrointestinal Cancer in 2018. Presently, CGA-IGC enjoys record-high membership, with over 500 members. A new 3-year strategic plan was implemented in 2024 to guide CGA-IGC into its next 30 years.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"15"},"PeriodicalIF":2.1,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hearing preservation and restoration surgery in NF2-related schwannomatosis.","authors":"Christopher G Wood, Nathan Huey, Christine Carter, Nathaniel Truong, Fred G Ii Barker, Scott R Plotkin, D Bradley Welling","doi":"10.1007/s10689-025-00518-z","DOIUrl":"10.1007/s10689-025-00518-z","url":null,"abstract":"&lt;p&gt;&lt;p&gt;To analyze factors associated with hearing preservation in patients undergoing surgery with NF2-related schwannomatosis (NF2-SWN) vestibular schwannomas (VS), and to evaluate artificial intelligence/machine learning (AI/ML) predictors of hearing preservation. Retrospective analysis of NF2-SWN patients with a preoperative word recognition score (WRS) of greater than 50% who were undergoing surgical resection of VS with the goal of hearing preservation. Factors evaluated for influence on hearing preservation included preoperative tumor size and location, pure tone average and WRS, age of onset of NF2-SWN symptoms, auditory brainstem response (ABR), NF2 genetic severity score, inflammation in the cochlea and labyrinth, and surgical approach. The relationship between factors and hearing preservation was evaluated with univariate and multivariable analysis and a “SuperLearner” AI/ML model. When hearing was not preserved, outcomes of cochlear implants (CI) and auditory brainstem implants (ABI) are presented. Of 322 patients with NF2-SWN, 191 underwent surgical excision of VS. Fifty-two (27%) had WRS &gt; 50% and tumor configuration allowing attempted hearing preservation. Twenty-three of the 52 patients had postoperative WRS &gt; 50% (44%). The mean tumor size when hearing was preserved was 16.4 mm whereas the mean tumor size in those not preserved was 22.2 mm giving an odds ratio (OR) on univariate analysis of 0.90 (CI 0.85–0.95) suggesting larger tumors were less likely to have preserved hearing. For 12 patients with greater than 5-year follow up and preserved hearing, the mean time for their WRS to degrade below 50% was 11.6 years. Univariate regression also identified the presence of normal wave V on ABR having higher OR of hearing preservation 30.9 (95% CI, 3.78, 252.2) whereas tumors touching the brainstem lowered the odds ratio of hearing preservation of 0.07 (95%CI, 0.02, 0.24). However, none of the factors remained significant on multivariate regression after adjusting for other factors. In an AI/ML SuperLearner model, the most influential variables were normal ABR, lack of tumor contact with the brainstem, and preoperative WRS. The accuracy was 85% (79–91%); the sensitivity: 0.69 (0.50–0.86) and the specificity: 0.87 (0.80–0.95). This model of implies that collectively there is indeed useful information for predicting hearing preservation at surgery from these data. Cochlear implant and auditory brainstem implant rehabilitation is also reported. Seventy-three percent of NF2-SWN patients in this study had poor hearing at the time of surgery limiting hearing preservation. Current hearing preservation options are largely inadequate. Factors influencing postoperative hearing in NF2-SWN VS resection when combined with AI/ML may aid in predicting surgical outcomes. Further confirmational studies are needed. CI and ABI are shown to provide long-term hearing rehabilitation options for a modest proportion of NF2-SWN patients. Earlier intervention and ","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"14"},"PeriodicalIF":2.1,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploration of familial genetic test result communication among Black women within an academic safety net hospital.","authors":"Ruchi Aluwalia, Nadia Ali, Christine Stanislaw, Regina Leonis, Jade Jones, Jamie Paysour","doi":"10.1007/s10689-026-00532-9","DOIUrl":"10.1007/s10689-026-00532-9","url":null,"abstract":"<p><p>Individuals who receive a pathogenic result from hereditary cancer genetic testing face challenges effectively sharing this information with their relatives, leading to low rates of familial cascade testing. Communication of a cancer predisposition and subsequent familial testing is important, so at-risk relatives can receive appropriate medical screenings and risk-reducing interventions. While barriers and facilitators to cascade testing have been explored primarily among individuals who are White and report higher incomes, they have not been thoroughly assessed among other groups. This study explored the experiences of Black women sharing their pathogenic cancer genetic test results with their relatives. All eight participants had received genetic counseling and testing at Grady Memorial Hospital, an academic safety net hospital in Atlanta, Georgia. Participants completed semi-structured interviews about barriers and facilitators they experienced while disclosing their genetic test results to relatives. Interviews were independently coded amongst two coders (RA/JP), thematic content analysis was performed, and a pooled Cohen’s Kappa of 0.69 was obtained. Notable barriers to disclosure included distrust in the accuracy of genetic testing results and misconceptions such as perm products causing heritable gene mutations. Unique facilitators of cascade testing include feelings of empowerment and reliance on personal faith as a coping strategy before sharing results. Participants provided suggestions to improve the cascade testing process, such as family result sessions and community awareness events. Genetic counselors can utilize these unique facilitators and barriers to cascade testing to provide culturally appropriate care and to improve communication of results among families receiving hereditary cancer testing.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"13"},"PeriodicalIF":2.1,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146085165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delphi panel consensus on genetic testing for prostate cancer in Australia: Whom to test and how?","authors":"Kim Edmunds, Shiksha Arora, Sri Teppala, Paul Scuffham, David Fairbairn, Matthew J Roberts, Lisa Horvath, David P Smith, Haitham Tuffaha","doi":"10.1007/s10689-025-00528-x","DOIUrl":"10.1007/s10689-025-00528-x","url":null,"abstract":"<p><p>The purpose of this study was to estimate the consensus of Australian Health Professionals and/or Researchers (HP/Rs) and Consumers (patients/family/carers) (Cs) on international genetic testing recommendations. Modified Delphi Panel study with seven domains of interest. Fifty-five statements were devised for an online survey administered in REDCap. HP/Rs and Cs were recruited from professional networks and associations for participation in the study. Statements were rated using a Likert scale and analysed using descriptive statistics. Free text comments were allowed within each domain and analysed using thematic analysis. Thirty-six HP/Rs and 27 Cs participated. There was consensus on testing men with a family history of a high-risk hereditary gene; men with PCa and a family history of Hereditary Breast and Ovarian Cancer (HBOC) syndrome or Lynch syndrome; and men with metastatic PCa. There was consensus on testing BRCA2, BRCA1 and DNA MMR genes for men with metastatic PCa. Thematic analysis of HP/R comments revealed three main topics: the lack of information to make a decision, insufficient knowledge of genetic testing, and capacity to provide genetic testing and counselling. This is the first Australian study on genetic testing recommendations in PCa to inform who should be tested and how. Our study showed apparent deficits in knowledge and implementation, exacerbated by workforce issues around the provision of genetic counselling and testing. Future work should focus on evaluating these recommendations for implementation in Australian practice.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"12"},"PeriodicalIF":2.1,"publicationDate":"2026-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and pilot testing of AYA-RISE, a risk information and screening education intervention for adolescents and young adults with cancer risk syndromes.","authors":"Junne Kamihara, Lauren Fisher, Jaclyn Schienda, Rebecca Vanderwall, Moran Snir, Guy Snir, Emilie Simmons, Andrew Khalaj, Evan Goler, Kayla V Hamilton, Christopher C Porter, Bojana Pencheva, Joshua D Schiffman, Luke D Maese, Wendy Kohlmann, Tara O Henderson, Judy E Garber, Lisa R Diller, Ami V Desai, Sarah Savage, James L Klosky, Huma Q Rana, Jennifer W Mack","doi":"10.1007/s10689-025-00525-0","DOIUrl":"10.1007/s10689-025-00525-0","url":null,"abstract":"<p><p>Genetic testing is increasingly recommended for adolescents and young adults (AYAs) with cancer; however, no AYA-specific models for cancer risk communication have been developed. We developed a chatbot-based patient- and family-centered cancer risk communication tool, the AYA-RISE (AYA-Risk Information and Screening Education) intervention for AYAs aged 12–24 years.The intervention was developed together with AYAs with cancer risk syndromes, their family members, and clinicians, using Invitae’s Gia® chatbot (study Phase 1). 17 AYAs participated in a group discussion and completed surveys for input regarding development. Content was developed for 9 different syndromes. AYA-RISE was then refined after iterative input (Phase 2) and evaluated for feasibility and preliminary outcomes in a pilot study (Phase 3).100% of AYAs used the intervention through a point at which risk information was presented via the chatbot and portal demonstrating enrollment and chatbot use feasibility. Our threshold for acceptability was exceeded, with a post-test Acceptability of Intervention Measure (AIM) score of > 4 by 80% of AYAs. In the pre-visit survey, 40% of AYAs correctly reported risk of cancer by age 30, and 20% correctly reported lifetime cancer risk. Following the visit and use of the chat, 60% correctly reported risk of cancer by age 30 and 90% correctly reported lifetime risk. No significant differences in participant pre (3.4) and post (3.6, p=.34) distress thermometer mean scores were observed.The AYA-RISE intervention was feasible and acceptable for use by AYAs. Preliminary outcomes included improved knowledge when used in conjunction with a cancer risk clinic visit, without increasing distress. A randomized trial is currently ongoing.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"11"},"PeriodicalIF":2.1,"publicationDate":"2026-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12830487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146029009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}