Familial Cancer最新文献_第4页

When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling. 当屏幕时间失败时：在远程医疗咨询后，主动提高遗传性癌症基因检测的完成度。

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-25 DOI: 10.1007/s10689-026-00585-w

Isabel R Murray, Muhammad Danyal Ahsan, Lauren Mitchell, Siena Gioia, Michelle Primiano, Amanda Laterza Ozarowski, Tina Karimaghaie, Steve Lopez, Ravi N Sharaf, Melissa K Frey

{"title":"When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling.","authors":"Isabel R Murray, Muhammad Danyal Ahsan, Lauren Mitchell, Siena Gioia, Michelle Primiano, Amanda Laterza Ozarowski, Tina Karimaghaie, Steve Lopez, Ravi N Sharaf, Melissa K Frey","doi":"10.1007/s10689-026-00585-w","DOIUrl":"10.1007/s10689-026-00585-w","url":null,"abstract":"Telemedicine has broadened access to genetic counseling while maintaining high levels of patient satisfaction. However, emerging evidence suggests lower completion rates of genetic testing following virtual visits compared with in-person encounters. This study evaluated genetic testing completion rates among patients who underwent cancer risk assessment via telemedicine and assessed the effect of a structured follow-up telephone reminder on genetic testing completion. We conducted a retrospective review of a quality improvement initiative - Genetic Engagement via Navigation and Encouragement (GENE CALL) - designed to address incomplete genetic testing following telemedicine counseling. The study included all patients who underwent virtual cancer risk assessment between September 2023 and July 2024 at a single urban academic cancer genetics program. Patients who expressed interest in genetic testing but had not scheduled specimen collection were contacted by telephone as a reminder. During the call, patients were asked about ongoing interest in testing and barriers to scheduling; they were also offered assistance completing specimen collection. Among 647 patients evaluated via telemedicine, 469 (72.5%) expressed interest in genetic testing. Of these, 290 (61.8%) had scheduled or completed testing, while 179 (38.2%) had not. Among those who had not scheduled testing, 120 (67.0%) were successfully reached by telephone, and 98 (81.7%) confirmed ongoing interest in completing testing. At 3-month follow-up, 48 (40.0%) of the 120 contacted patients had completed testing, compared with 13 (22.0%) of 59 patients who were not reached (p = 0.017). Telephone follow-up is an effective strategy to improve genetic testing completion after virtual counseling.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148316398","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}

引用次数: 0

Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort. 单等位基因NTHL1 p.（Gln90*）与癌症风险：来自大型土耳其队列的证据

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-19 DOI: 10.1007/s10689-026-00578-9

Esma Ertürkmen Aru, Afife Büke, Hanife Saat, Taha Bahsi, Abdullah Sezer, Haktan Bağış Erdem

{"title":"Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort.","authors":"Esma Ertürkmen Aru, Afife Büke, Hanife Saat, Taha Bahsi, Abdullah Sezer, Haktan Bağış Erdem","doi":"10.1007/s10689-026-00578-9","DOIUrl":"10.1007/s10689-026-00578-9","url":null,"abstract":"Biallelic loss-of-function variants in NTHL1 are associated with an autosomal recessive cancer predisposition syndrome, whereas the cancer risk associated with monoallelic NTHL1 variants remains uncertain. The recurrent truncating variant p.(Gln90*), the first described and most frequently observed pathogenic NTHL1 variant, is commonly detected in the monoallelic state in population databases and diagnostic multigene panels, creating a clinical challenge in cancer risk interpretation. We aimed to assess the cancer risk associated with monoallelic NTHL1 p.(Gln90*) in a large Turkish cohort. We retrospectively analyzed 8,100 individuals who underwent hereditary cancer syndrome multigene panel testing and 10,000 individuals analyzed by exome sequencing for non-oncologic indications at a tertiary referral center. Carriers of the NTHL1 c.268C>T, p.(Gln90*) (rs150766139) variant were evaluated. Carrier frequencies were compared between cohorts and with population-based datasets using a carrier-rate-based analytical approach. The NTHL1 p.(Gln90*) variant was identified in 0.36% of individuals in the hereditary cancer testing cohort and in 0.27% of individuals in the exome sequencing cohort, with no significant difference in carrier frequency. Monoallelic NTHL1 p.(Gln90*) carriers were not enriched in the hereditary cancer testing cohort compared with population-based controls. All biallelic carriers presented with colorectal and/or breast cancer, consistent with established phenotypes. Notably, 19.2% of monoallelic carriers harbored additional pathogenic or likely pathogenic variants in established cancer susceptibility genes. In conclusion, the absence of enrichment among monoallelic carriers compared with hereditary cancer testing and population-based control cohorts, together with the frequent detection of co-occurring pathogenic variants, supports a zygosity-dependent interpretation of the NTHL1 p.(Gln90*) variant. Monoallelic NTHL1 p.(Gln90*) and Cancer Risk: Evidence From a Large Turkish Cohort.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148276655","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}

引用次数: 0

Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaire. nf2相关神经鞘瘤病患者生活质量的决定因素及荷兰nfi - qol问卷的验证

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-18 DOI: 10.1007/s10689-026-00581-0

Annemijn L Tops, Dorine Goemans, Emmelien Aten, Josefine E Schopman, Radboud W Koot, Hans Gelderblom, Jeroen C Jansen, Erik F Hensen

{"title":"Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaire.","authors":"Annemijn L Tops, Dorine Goemans, Emmelien Aten, Josefine E Schopman, Radboud W Koot, Hans Gelderblom, Jeroen C Jansen, Erik F Hensen","doi":"10.1007/s10689-026-00581-0","DOIUrl":"10.1007/s10689-026-00581-0","url":null,"abstract":"NF2-Related Schwannomatosis (NF2-SWN) is a rare tumor predisposition syndrome characterized by heterogeneous clinical manifestations that substantially impact quality of life (QOL). In this diverse patient population, a disease-specific QOL instrument is essential for both research and clinical decision-making. Insight into factors associated with QOL may further facilitate the tailoring of management strategies to individual patient needs. This study aimed to validate the Dutch version of the NF2 Impact on Quality of Life questionnaire (NFTI-QOL) and to identify factors associated with QOL in Dutch patients with NF2. Following forward‑ and backward‑translation, the NFTI-QOL was administered to NF2-SWN patients alongside the SF‑36, EQ‑5D and PANQOL. The NFTI-QOL was repeated after one week. Demographic and clinical data were extracted from medical records. To provide clinical context, questionnaires were also administered to patients with sporadic vestibular schwannoma (sVS). 64 NF2-SWN and 51 sVS patients completed the questionnaires. The NFTI-QOL demonstrated good validity and reliability. In multivariate linear regression, dizziness (β = 2.533, p = 0.027) and facial weakness (β = 4.064, p = 0.008) were significantly associated with QOL, whereas hearing complaints were not. Surprisingly, overall QOL did not differ between NF2-SWN and sVS patients, whereas patients with sVS even reported poorer hearing-related QOL. The Dutch NFTI-QOL is a reliable instrument for assessing QOL in NF2-SWN patients. Dizziness and facial weakness were associated with lower QOL, while hearing problems were not.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13279275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148270919","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}

引用次数: 0

Von Hippel-Lindau disease: pathophysiological and clinical advances. Von Hippel-Lindau病：病理生理和临床进展。

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-18 DOI: 10.1007/s10689-026-00579-8

S J van Alfen, K van der Tuin, B van de Kooij, T P Links, W T Zandee

{"title":"Von Hippel-Lindau disease: pathophysiological and clinical advances.","authors":"S J van Alfen, K van der Tuin, B van de Kooij, T P Links, W T Zandee","doi":"10.1007/s10689-026-00579-8","DOIUrl":"10.1007/s10689-026-00579-8","url":null,"abstract":"Von Hippel-Lindau (VHL) disease is a hereditary tumor predisposition syndrome caused by pathogenic germline variants in the VHL gene. Patients with VHL disease have an increased risk of developing characteristic VHL disease-associated lesions such as clear cell renal cell carcinoma, retinal angioma, central nervous system hemangioblastoma, pancreatic neuroendocrine tumors and pheochromocytomas. Loss of the VHL gene results in increased levels of the α-subunits of the heterodimeric hypoxia inducible factor (HIF). This drives transcription of HIF target genes which are involved in, amongst others: angiogenesis, erythropoiesis and iron metabolism. HIFs have been recognized as major drivers of VHL disease pathology and based on this notion, the HIF-2α inhibitor belzutifan was developed, which has marked a major breakthrough in the treatment of this disease. Belzutifan has now been approved for the treatment of a variety of VHL disease-associated lesions by the Food and Drug Administration and the European Medicines Agency. Interestingly, recent studies suggest that pVHL has functions beyond controlling HIF levels, and loss of these HIF-independent functions may further contribute to tumorigenesis in VHL disease. This review summarizes the most recent advances in pathophysiology, genotype-phenotype correlation, treatment guidelines, and potential future treatment options related to VHL disease.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13279576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148270963","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}

引用次数: 0

Homozygous TP53 alterations: a case of a biallelic splice variant and a brief review of the literature. 纯合子TP53改变：双等位剪接变异体的一个案例和简要的文献回顾。

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-12 DOI: 10.1007/s10689-026-00580-1

Said Furkan Yildirim, Ahmet Cevdet Ceylan

{"title":"Homozygous TP53 alterations: a case of a biallelic splice variant and a brief review of the literature.","authors":"Said Furkan Yildirim, Ahmet Cevdet Ceylan","doi":"10.1007/s10689-026-00580-1","DOIUrl":"10.1007/s10689-026-00580-1","url":null,"abstract":"Biallelic germline variants in TP53 are exceedingly rare, and their clinical consequences remain poorly defined. Here, we report a female infant born to consanguineous parents who presented with early-onset, aggressive choroid plexus carcinoma causing death at age 4. Molecular analysis identified a homozygous synonymous variant in the last nucleotide of exon 4 in TP53 (NM_000546.6:c.375G > A, p.Thr125 =). This variant has been previously shown to cause aberrant splicing and partial loss of p53 function, and has been associated with variable penetrance in heterozygous carriers. Both parents, who were first cousins, were heterozygous carriers, and no malignancy history was present at the time of diagnosis. Following identification of carrier status, the couple underwent preimplantation genetic testing and subsequently had a child who did not inherit the familial TP53 variant. This report represents one of the very few documented cases of biallelic TP53 variants and underscores the phenotypic heterogeneity associated with TP53 homozygosity. The case highlights the importance of genetic evaluation in pediatric patients with rare aggressive tumors, particularly in consanguineous families, and demonstrates the critical role of genetic counseling and surveillance in affected relatives.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148224183","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}

引用次数: 0

Protecting the health of donor-conceived offspring. 保护捐赠者受孕后代的健康。

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-11 DOI: 10.1007/s10689-026-00576-x

Anath A Flugelman, Eli Y Adashi, Zohar Levi

{"title":"Protecting the health of donor-conceived offspring.","authors":"Anath A Flugelman, Eli Y Adashi, Zohar Levi","doi":"10.1007/s10689-026-00576-x","DOIUrl":"10.1007/s10689-026-00576-x","url":null,"abstract":"Genetic screening of gamete donors bears critical importance for protecting donor-conceived offspring. This case report describes a woman in her forties who discovered through genealogical testing that she carries a Lynch syndrome-related pathogenic MSH2 variant inherited from an anonymous sperm donor. Her genetic father died of colorectal cancer at a young age, and among her identified genetic half-siblings, one had already developed advanced colorectal cancer. Had the donor been screened for actionable pathogenic variants-such as the Lynch syndrome-associated mutation identified in this case, for which surveillance and preventive measures are available-this information could have enabled early surveillance, prevention, and informed reproductive decision-making for both the donor and offspring. We review current screening approaches, which rely on family history assessment that while requiring a three-generation pedigree per regulatory guidelines, may be incomplete due to the donor's young age, limited family knowledge, or low disease penetrance, and on targeted genetic panels that may miss actionable pathogenic variants. Recent advances in population genomic screening, including expanded carrier screening and testing for adult-onset conditions, now make screening for actionable pathogenic variants in gamete donors increasingly feasible. We address ethical considerations including donor autonomy, the right to know genetic information, and information disclosure policies. We examine international legal frameworks governing gamete donation and genetic screening. Our recommendations include comprehensive genetic screening of all donors for actionable pathogenic variants, centralized registries linking donors to offspring, standardized protocols for updating families with new genetic information, and clear policies addressing donor anonymity in the genomic era. Implementation of these recommendations would significantly reduce preventable morbidity and mortality in donor-conceived individuals while respecting the rights of all parties involved.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148217176","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}

引用次数: 0

RPS20 as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls. RPS20作为结直肠癌易感基因：9738例和161403例对照的文献综述和评价

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-11 DOI: 10.1007/s10689-026-00582-z

Anusha Amanullah, Juan Fernández-Tajes, Guler Gul, Steve Thorn, Ignacio Soriano, Joseph C Ward, Kitty Sherwood, Ian Tomlinson

{"title":"RPS20 as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls.","authors":"Anusha Amanullah, Juan Fernández-Tajes, Guler Gul, Steve Thorn, Ignacio Soriano, Joseph C Ward, Kitty Sherwood, Ian Tomlinson","doi":"10.1007/s10689-026-00582-z","DOIUrl":"10.1007/s10689-026-00582-z","url":null,"abstract":"Germline variants in Ribosomal Protein S20 (RPS20) have been reported to predispose to colorectal cancer (CRC) based on occurrence in a total of 3455 CRC cases and co-segregation with disease in 3 families. RPS20 encodes a component of the ribosomal 40 S subunit, but the mechanism by which the variants might influence CRC risk remains unclear. The current study assessed the association of RPS20 variants with CRC predisposition in whole-genome sequencing (WGS) data from 9738 CRC cases and 161,403 cancer-free controls from the COloRectal tumour Gene Identification consortium (CORGI) study, 100,000 Genomes (100kGP) and UK Biobank (UKB). One hundred and sixty-eight CORGI cases and 23 100kGP cases were recruited based on a family history of CRC. After excluding common polymorphisms, we identified one putative loss-of-function RPS20 variant in cases (p.Ile89fs), and none in controls. This individual was not from a multiplex family, and hence co-segregation analysis of the variant and disease was not possible. One in-frame deletion and one missense variant predicted to be probably pathogenic were found in controls. We also reviewed the evidence on RPS20 and CRC risk from the literature. We concluded that the combined data do not show conclusively that RPS20 is a proven CRC predisposition gene. Its inclusion in diagnostic gene panels for CRC cannot be justified until and unless stronger supporting evidence becomes available in the future.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148217255","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}

引用次数: 0

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population. 土耳其人群中多位点遗传性肿瘤等位基因综合征（MINAS）病例的分子特征和临床特征。

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-08 DOI: 10.1007/s10689-026-00577-w

Mehmet Berkay Akcan, Ali Duru, Kadri Murat Erdoğan, Özge Özer Kaya, Selcan Keşan, Özgür Kırbıyık, Tuba Sözen Türk, Feyza Altunbaş Yalabık, Yaşar Bekir Kutbay, Özlem Anlaş, Merve Saka Güvenç, Altuğ Koç, Olçun Ümit Ünal, Berk Özyılmaz, Taha Reşid Özdemir

{"title":"Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population.","authors":"Mehmet Berkay Akcan, Ali Duru, Kadri Murat Erdoğan, Özge Özer Kaya, Selcan Keşan, Özgür Kırbıyık, Tuba Sözen Türk, Feyza Altunbaş Yalabık, Yaşar Bekir Kutbay, Özlem Anlaş, Merve Saka Güvenç, Altuğ Koç, Olçun Ümit Ünal, Berk Özyılmaz, Taha Reşid Özdemir","doi":"10.1007/s10689-026-00577-w","DOIUrl":"10.1007/s10689-026-00577-w","url":null,"abstract":"Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) is a rare genetic syndrome characterized by the presence of multiple pathogenic/likely pathogenic(P/LP) variants in different cancer predisposition genes within the same individual. Patients with MINAS may face early age at onset and multiple primary malignancies. In our study, we aimed to characterize the prevalence and clinical landscape of MINAS in a major Turkish hereditary cancer cohort. We retrospectively analyzed NGS oncorisk panel results of 5000 individuals who presented to the Medical Genetics Unit of İzmir City Hospital between 2024 and 2025 with a preliminary diagnosis of hereditary cancer syndrome due to a personal and/or family history of malignancy. Our diagnostic workflow uniquely integrated Single Nucleotide Variant (SNV) detection with Copy Number Variation (CNV) calling. MINAS prevalence was 0.86% (43/5000). Dual-gene alterations were detected in 42 patients, while one featured a triple-gene alteration (BRIP1-CHEK2-MUTYH). The most frequent combination was BRCA2-CHEK2 (n = 6). Notably, CNVs were identified in 7% of cases, highlighting the necessity of structural variant analysis. Malignancy was present in 70% (30/43) of carriers, with a median age at first diagnosis of 47 years (range: 31-77). Early-onset cancer (< 40 years) was observed in 32% of cases. Our findings represents the largest Turkish MINAS cohort to date. While phenotypes often align with the most penetrant allele, spesific instances may hint at the potential for synergistic effects in certain individuals. Management should transition toward personalized, multi-variant surveillance strategies incorporating both SNV and CNV data.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197930","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}

引用次数: 0

Colonoscopy findings and polyp pathology in CHEK2 carriers: a single center experience. CHEK2携带者的结肠镜检查结果和息肉病理：单一中心经验。

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-06-02 DOI: 10.1007/s10689-026-00574-z

Joshua Rosario, Sheng Zhou, Nicholas Bartell, Danielle Marino

{"title":"Colonoscopy findings and polyp pathology in CHEK2 carriers: a single center experience.","authors":"Joshua Rosario, Sheng Zhou, Nicholas Bartell, Danielle Marino","doi":"10.1007/s10689-026-00574-z","DOIUrl":"10.1007/s10689-026-00574-z","url":null,"abstract":"Checkpoint kinase 2 is a moderate-penetrance cancer susceptibility gene associated with increased colorectal cancer risk. Recent guideline updates recommend average-risk colorectal cancer screening for carriers; however, real-world colonoscopy data remain limited. We performed a retrospective review of individuals with confirmed pathogenic or likely pathogenic checkpoint kinase 2 variants identified through an institutional hereditary cancer registry from 2011 to 2024. Colonoscopy and pathology reports were analyzed for demographics, cancer history, bowel preparation quality, and polyp characteristics including number, size, histology, and location. Among 144 patients undergoing 154 colonoscopies, median age at examination was 54 years. Polyps were identified in 51% of patients. Tubular adenomas were most common (28.6%), followed by hyperplastic polyps (18.3%) and sessile serrated lesions (10.4%). Advanced neoplasia, defined using conventional advanced adenoma-based criteria (size > 1 cm, villous features, high-grade dysplasia, or classified as intramucosal or invasive carcinoma) as well as including sessile serrated lesions ≥1 cm, were identified in 4.6%. Polyps measuring at least 1 centimeter were observed in 7.1%, and colorectal cancer was diagnosed in 1.3%. Proximal-only polyps were identified in 22.1% of examinations. Detection of tubular adenomas and proximal lesions increased with successive colonoscopies. This single-center experience demonstrates a moderate polyp burden with low rates of advanced neoplasia and colorectal cancer, supporting current recommendations for average-risk screening while highlighting the relevance of careful proximal examination.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143435","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}

引用次数: 0

Association of gestational choriocarcinoma in a mother and Li-Fraumeni syndrome in her child: The result of a single event? 一位母亲的妊娠绒毛膜癌与她的孩子的Li-Fraumeni综合征的关联：单一事件的结果？

IF 2.1 4区医学

Familial Cancer Pub Date : 2026-05-25 DOI: 10.1007/s10689-026-00573-0

Juliette Sallé, Marie-Anne Brundler, Renee Perrier, Mary Brindle, Lucie Lafay-Cousin

引用次数: 0