Inter-professional collaboration could improve timely access and quality of oncogenetic services. Here, we present the results of a scoping review conducted to systematically identify collaborative models available, unpack the nature and extent of collaboration proposed, synthesize evidence on their implementation and evaluation, and identify areas where additional research is needed. A comprehensive search was conducted in four journal indexing databases on June 13th, 2022, and complemented with searches of the grey literature and citations. Screening was conducted by two independent reviewers. Eligible documents included those describing either the theory of change, planning, implementation and/or evaluation of collaborative oncogenetic models. 165 publications were identified, describing 136 unique interventions/studies on oncogenetic models with somewhat overlapping collaborative features. Collaboration appears to be mostly inter-professional in nature, often taking place during risk assessment and pre-testing genetic counseling. Yet, most publications provide very limited information on their collaborative features, and only a few studies have set out to formally evaluate them. Better quality research is needed to comprehensively examine and make conclusions regarding the value of collaboration in this oncogenetics. We propose a definition, logic model, and typology of collaborative oncogenetic models to strengthen future planning, implementation, and evaluation in this field.

BACKGROUND: Understanding service user preferences is key to effective health care decision making and efficient resource allocation. It is of particular importance in the management of high-risk patients in whom predictive genetic testing can alter health outcomes.
OBJECTIVE: This review aims to identify the relative importance and willingness to pay for attributes of genetic testing in hereditary cancer syndromes.
METHODS: Searches were conducted in Medline, Embase, PsycINFO, HMIC, Web of Science, and EconLit using discrete choice experiment (DCE) terms combined with terms related to hereditary cancer syndromes, malignancy synonyms, and genetic testing.
METHODS: Following independent screening by 3 reviewers, 7 studies fulfilled the inclusion criteria, being a DCE investigating patient or public preferences related to predictive genetic testing for hereditary cancer syndromes.
METHODS: Extracted data included study and respondent characteristics, DCE attributes and levels, methods of data analysis and interpretation, and key study findings.
RESULTS: Studies covered colorectal, breast, and ovarian cancer syndromes. Results were summarized in a narrative synthesis and the quality assessed using the Lancsar and Louviere framework.
CONCLUSIONS: This review focuses only on DCE design and testing for hereditary cancer syndromes rather than other complex diseases. Challenges also arose from heterogeneity in attributes and levels.
CONCLUSIONS: Test effectiveness and detection rates were consistently important to respondents and thus should be prioritized by policy makers. Accuracy, cost, and wait time, while also important, showed variation between studies, although overall reduction in cost may improve uptake. Patients and the public would be willing to pay for improved detection and clinician over insurance provider involvement. Future studies should seek to contextualize findings by considering the impact of sociodemographic characteristics, health system coverage, and insurance policies on preferences.
CONCLUSIONS: Test effectiveness and detection rates are consistently important to respondents in genetic testing for hereditary cancer syndromes.Reducing the cost of genetic testing for hereditary cancer syndromes may improve uptake.Individuals are most willing to pay for a test that improves detection rates, identifies multiple cancers, and for which results are shared with a doctor rather than with an insurance provider.

UNASSIGNED: Although only a small proportion of colorectal cancer (CRC) cases develop in adolescents and young adults (AYAs), its incidence has increased recently. We aimed to conduct a narrative literature review and summarize the epidemiology, clinicopathological features, genetics, and treatments for AYA-CRCs.
UNASSIGNED: We searched the articles published in the PubMed database until November 30, 2022, with keywords, \"((adolescent and young adult) OR AYA) AND ((colorectal cancer) OR (colon cancer) OR (rectal cancer))\" and \"young-onset AND ((colorectal cancer) OR (colon cancer) OR (rectal cancer))\".
UNASSIGNED: In Japan, the annual incidence of AYA-CRC was approximately 1,200 in the 1970s, but has increased to 2,000 nowadays. An increased incidence of AYA-CRC has also been reported in other countries. AYA-CRC tends to be a more advanced disease at presentation than CRC in older patients, with more adverse histological features and variability in molecular characteristics. Diagnosis of CRC is often delayed in AYAs because they are not invited to undergo cancer screening. Three to five percent of patients with AYA-CRC have hereditary cancer syndromes such as Lynch syndrome and familial adenomatous polyposis (FAP), and a family history should be obtained. Additionally, providing information on fertility preservation and social systems before starting treatment is important for sustainable treatment and life after cancer treatment.
UNASSIGNED: The number of AYA-CRC cases is increasing in Japan. Before initiating treatment for AYA-CRC, we should know that these patients may have a hereditary disease and fertility preservation should be explained. More physicians should be aware of the importance of AYA-CRC.

Alternative splicing (AS), a crucial cellular process, is a source of transcriptomic expansion and protein variability. Its contribution to cancer development and progression among a vast repertoire of human diseases, is highlighted lately and is under extensive investigation. In this review, the relative recent aspects of AS as a hallmark of cancer are described. In parallel, the importance of the identification of splicing-related variants through next-generation sequencing technologies is discussed. Cancer therapy and the management of patients and their families can highly benefit by the classification of these variants.

(1) Background: The link between lifestyle behaviors and cancer risk is well established, which is important for people with personal/family history or genetic susceptibility. Genetic testing is not sufficient motivation to prompt healthier lifestyle behaviors. This systematic review aims to describe and assess interventions for promoting healthy behaviors in people at high risk of cancer. (2) Methods: The review was performed according to PRISMA guidelines using search terms related to hereditary cancer and health education to identify studies indexed in: CINAHL, MEDLINE, PubMed, Cochrane Library, Scopus, and Joanna Briggs, and published from January 2010 to July 2022. (3) Results: The search yielded 1558 initial records; four randomized controlled trials were eligible. Three included patients with and without a personal history of cancer who were at increased risk of cancer due to inherited cancer syndromes, and one included people undergoing genetic testing due to family history. Interventions targeted diet, physical activity, and alcohol. (4) Conclusions: There is a paucity of research on interventions for promoting healthy lifestyle behaviors in people with a high risk of cancer. Interventions produced positive short-term results, but there was no evidence that behavioral modifications were sustained over time. All healthcare professionals can actively promote healthy behaviors that may prevent cancer.

The expansion of Multi-Gene Panel Testing (MGPT) has led to increased detection of variants of uncertain significance (VUS) among individuals with personal or family history of cancer. However, having a VUS result can impact on emotional and psychological wellbeing and cause challenges for non-geneticist healthcare providers. The purpose of this mixed methods systematic review was to examine what is currently known about the experiences of individuals with a VUS on genetic testing for inherited cancer susceptibility. The initial search was conducted in June 2020 using PUBMED, CINAHL, Web of Science, and PsychInfo according to the Joanna Briggs methodology for systematic reviews. A total of 18 studies met the inclusion criteria. Studies included in this review identified a range of emotional reactions to a VUS result, a general lack of understanding of a VUS result and its implications, frustration with a lack of healthcare provider knowledge, and a need for clear communication with healthcare providers. This review identified critical gaps in current knowledge to guide genetic counseling praxis, specifically in the knowledge of communication patterns and methods of improving communication with healthcare providers and family members and preferred risk management strategies. This will help to improve the counseling process and the management of care during and after genetic testing.

Although risk-reduction interventions for inherited cancer can significantly reduce cancer risk, they may also lead to distressing symptoms. It is not well understood how clinicians support patients in managing such concerns. This scoping review describes nonsurgical, nonpharmacologic interventions for adults with inherited cancer risk who have completed risk reduction.
Five publications were identified following a database review for English-language articles published from 2015 to 2020.
Sample, content, methods, and outcomes of included interventions are summarized.
The study identified five interventions.
Future research should target a broader variety of heritable cancers to identify effective strategies for addressing challenges with risk-reduction interventions for inherited cancer.

Prenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made. A retrospective chart review and pedigree analysis were performed for prenatal/preconception genetic counseling patients with a family history of cancer seen at two academic institutions between August 10, 2019, and December 1, 2019. In the 170 charts included, a recommendation for cancer genetic counseling was documented in 40% of all genetic counseling summaries and in 59.2% of summaries when NCCN genetic testing criteria for HBOC and/or Lynch syndrome was met. Using chi-squared and logistic regression analysis, these data support that individuals were significantly more likely to receive a recommendation when NCCN genetic testing criteria were met (OR = 5.01, p < .001) or when the family history contained two or more types of cancer (OR = 2.24, p = .02). Overall, this study identified the NCCN genetic testing criteria for HBOC and Lynch syndrome for which recommendations for cancer genetic counseling were commonly missed. This characterization suggests that continuing education for prenatal and preconception genetic counselors on updated NCCN guidelines may be helpful for improving rates of cancer genetic counseling referrals, uptake of genetic testing, and cancer screening recommendations.

UNASSIGNED: Colorectal cancer (CRC) occurs in all age groups, and the application of treatment may vary according to age. The study was designed to identify the characteristics of CRC by age.
UNASSIGNED: A total of 4,326 patients undergoing primary resection for CRC from September 2006 to July 2019 were reviewed. Patient and tumor characteristics, operative and postoperative data, and oncologic outcome were compared.
UNASSIGNED: Patients aged 60 to 69 years comprised the largest age group (29.7%), followed by those aged 50 to 59 and 70 to 79 (24.5% and 23.9%, respectively). Rectal cancer was common in all age groups, but right-sided colon cancer tended to be more frequent in older patients. In very elderly patients, there were significant numbers of emergency surgeries, and the frequencies of open surgery and permanent stoma were greater. In contrast, total abdominal colectomy or total proctocolectomy was performed frequently in patients in their teens and twenties. The elderly patients showed more advanced tumor stages and postoperative ileus. The incidence of adjuvant treatment was low in elderly patients, who also had shorter follow-up periods. Overall survival was reduced in older patients with stages 0 to 3 CRC (P<0.001), but disease-free survival did not differ by age (P=0.391).
UNASSIGNED: CRC screening at an earlier age than is currently undertaken may be necessary in Korea. In addition, improved surgical and oncological outcomes can be achieved through active treatment of the growing number of elderly CRC patients.

BACKGROUND: The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes\' homeostasis. Individuals harboring MITF germline pathogenic variants are at increased risk of developing cancer, most notably melanoma and renal cell carcinoma.
METHODS: We describe a cohort of ten individuals who harbor the same MITF c.952G > A (p.Glu 318Lys), or p.E318K, germline pathogenic variant. Six carriers developed at least one malignancy (4 cases of breast cancer; 1 cervical cancer; 1 colon cancer; 1 melanoma; 1 ovarian/fallopian tube cancer). A significant phenotypic heterogeneity was found among these individuals and their relatives. Breast cancer was, overall, the most frequent malignancy observed in this case series, with 13 occurrences of 60 (21.67 %) total cancer cases described among the probands and their relatives.
CONCLUSIONS: Our retrospective analysis data raise the hypothesis of a possible association of the MITF p.E318K pathogenic variant with an increased risk of breast cancer.