Familial Cancer最新文献_第2页

BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants. BRCAIndica：ACMG/AMP 分类的 BRCA1 和 BRCA2 变异资源。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-15 DOI: 10.1007/s10689-024-00429-5

Aastha Vatsyayan, R I Anu, Prerika Mathur, Divya Uchil, Ashish Joshi, Aradhana Dwivedi, Bhawna Sirohi, Aju Mathew, Dileep Damodaran, Soumya Surath Panda, Spoorthy Kolluri, Shaji K Ayillath, Deepak Amalnath, Gomathi Shankar, Kavita Pandhare, Vinod Scaria

{"title":"BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants.","authors":"Aastha Vatsyayan, R I Anu, Prerika Mathur, Divya Uchil, Ashish Joshi, Aradhana Dwivedi, Bhawna Sirohi, Aju Mathew, Dileep Damodaran, Soumya Surath Panda, Spoorthy Kolluri, Shaji K Ayillath, Deepak Amalnath, Gomathi Shankar, Kavita Pandhare, Vinod Scaria","doi":"10.1007/s10689-024-00429-5","DOIUrl":"10.1007/s10689-024-00429-5","url":null,"abstract":"As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely been limited by the lack of resources providing harmonized data especially at a population-scale. Here we describe BRCAIndica, a resource for BRCA1 and BRCA2 variants conforming to the ACMG & AMP joint guidelines to aid uniform clinical interpretation of genetic tests with a specific focus on variants reported in the Indian population. We collected and harmonized variants from across several resources including population-scale datasets, literature survey and other variant datasets. We then classified them according to the ACMG/AMP guidelines.We have collected a total of 10,490 unique variants, of which 2261 Pathogenic and 43 Likely Pathogenic variants belong to BRCA1 and 2694 Pathogenic and 20 Likely Pathogenic variants to BRCA2 respectively. BRCAIndica can be accessed at:https://clingen.igib.res.in/brcaindica/ . In conclusion, BRCAIndica is a powerful resource that offers researchers and clinicians with ACMG/AMP annotated BRCA variants.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"4"},"PeriodicalIF":1.8,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638570","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

Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis. 为预防遗传性乳腺癌和卵巢癌而接受输卵管卵巢切除术的妇女的心脏代谢结果发生率：一项荟萃分析。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-15 DOI: 10.1007/s10689-024-00431-x

Francisco Cezar Aquino de Moraes, Lucca Dal Moro, Maria Eduarda Cavalcanti Souza, Anna Luíza Soares de Oliveira Rodrigues, Vitor Kendi Tsuchiya Sano, Bárbara Ferraz Barbosa, Lucas Gama Pacheco, Daniel Ferreira Cunha, Otávio Luiz de Queiroz, Dilma do Socorro Moraes de Souza, Danielle Feio, Carlos Stecca, Rommel Mario Rodríguez Burbano

{"title":"Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis.","authors":"Francisco Cezar Aquino de Moraes, Lucca Dal Moro, Maria Eduarda Cavalcanti Souza, Anna Luíza Soares de Oliveira Rodrigues, Vitor Kendi Tsuchiya Sano, Bárbara Ferraz Barbosa, Lucas Gama Pacheco, Daniel Ferreira Cunha, Otávio Luiz de Queiroz, Dilma do Socorro Moraes de Souza, Danielle Feio, Carlos Stecca, Rommel Mario Rodríguez Burbano","doi":"10.1007/s10689-024-00431-x","DOIUrl":"10.1007/s10689-024-00431-x","url":null,"abstract":"Risk reduction salpingo-oophorectomy (RRSO) is usually performed in women with hereditary breast and ovarian cancer (HBOC) syndrome for BRCA1 and BRCA2 gene mutation carriers, resulting in surgical menopause, which is more associated with a high risk of cardiovascular and metabolic disease than in premenopausal and natural menopausal women. This study assessed the prevalence of cardiovascular and metabolic outcomes in women who underwent salpingo-oophorectomy as a preventive measure against HBOC. This meta-analysis assessed prevalence rates for four metabolic/cardiovascular conditions: myocardial infarction, hypertension, hypercholesterolemia, and type 2 diabetes mellitus. DerSimonian and Laird random-effects models were applied to all analyses, with 95% confidence interval (CI). Heterogeneity was assessed with I². We used OpenMeta Analyst software for statistical analysis. A total of five retrospective studies and one observational study involving 1,320 patients were included. The average body mass index (BMI) was 25.97 kg/m2 and the average waist circumference was 87.94 cm. The analysis across a mean 4.94-year follow-up revealed prevalence rates for acute myocardial infarction of 1.5% (95% CI 0.3-2.7; P = 0.077; I²=56.25%), hypertension of 28% (95% CI 6.9-49.1; P < 0.001; I2 = 98.42%), hypercholesterolemia of 27.2% (95% CI 6.8-47.6; P < 0.001; I²=98.67%), and type 2 diabetes mellitus of 3.3% (95% CI 1.1-5.5; P < 0.001; I²=82.44%). Our findings suggest that there is no marked increase in cardiovascular risk among women with HBOC undergoing RRSO.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"5"},"PeriodicalIF":1.8,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638577","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

Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature. 遗传性出血性毛细血管扩张症和幼年息肉病综合征重叠综合征：十年随访--病例系列和文献综述。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-15 DOI: 10.1007/s10689-024-00425-9

Maria Laura Gonzalez, Carolina Vazquez, Maria J Argüero, Juan P Santino, Ana Braslavsky, Marcelo M Serra

{"title":"Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.","authors":"Maria Laura Gonzalez, Carolina Vazquez, Maria J Argüero, Juan P Santino, Ana Braslavsky, Marcelo M Serra","doi":"10.1007/s10689-024-00425-9","DOIUrl":"10.1007/s10689-024-00425-9","url":null,"abstract":"Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family history of JPS. Both entities have a low prevalence. Mutation of SMAD4 leads to a combined syndrome of these two conditions called HHT-JPS Overlap Syndrome. We aim to describe the clinical characteristics associated with this condition focusing on long term follow up and review of the literature. A cross-sectional descriptive study of HHT-JPS cases from an HHT Institutional Registry was designed. Patients were eligible for this case series if they fulfilled both HHT and JPS diagnostic criteria and/or mutation on SMAD4. A comprehensive review was conducted on the clinical phenotype associated with HHT and its gastrointestinal involvement. Fourteen patients from eleven families in 788 previously HHT-diagnosed patients met the inclusion criteria. The ages ranged between 25 and 70 years old and 12 were females. In addition to the typical signs/symptoms of HHT, two distinct phenotypes were observed. Nine patients predominantly exhibited initially upper, while five showed predominantly initially lower gastrointestinal involvement. Numerous musculoskeletal and cardiovascular anomalies were also identified. The observed phenotypic diversity, particularly in gastrointestinal involvement, underscores the need for tailored clinical approaches. Comprehensive assessments identified associated musculoskeletal and cardiovascular anomalies, emphasizing the systemic nature of HHT-JPS.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"1"},"PeriodicalIF":1.8,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638575","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

Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow. 优化上皮性卵巢癌妇女遗传易感性的检测：在全国范围内实施 "肿瘤第一 "工作流程。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-05-29 DOI: 10.1007/s10689-024-00398-9

Vera M Witjes, Dorien M A Hermkens, Julie E M Swillens, Yvonne H C M Smolders, Marian J E Mourits, Margreet G E M Ausems, Joanne A de Hullu, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge

{"title":"Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow.","authors":"Vera M Witjes, Dorien M A Hermkens, Julie E M Swillens, Yvonne H C M Smolders, Marian J E Mourits, Margreet G E M Ausems, Joanne A de Hullu, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge","doi":"10.1007/s10689-024-00398-9","DOIUrl":"10.1007/s10689-024-00398-9","url":null,"abstract":"Genetic testing in patients with ovarian carcinoma (OC) is crucial, as around 10-15% of these women have a genetic predisposition to OC. Although guidelines have recommended universal germline testing for all patients with OC for a decade, implementation has proved challenging, thus resulting in low germline-testing rates (around 30-50%). Many new initiatives to improve genetic-testing rates have emerged, but most have been carried out at the local level, leading to differences in workflows within and between countries. We present an example of a nationwide implementation project that has successfully led to a uniform, high-quality genetic-testing workflow for women with OC. Nationwide multidisciplinary meetings generated consensus on the preferred workflow for OC genetic testing: the \"Tumor-First\" workflow. This workflow means starting by testing the tumor DNA for the presence of pathogenic variants in OC-risk genes, thus providing a prescreen to germline testing while yielding information on the effectiveness of treatment with PARP inhibitors. This new workflow efficiently stratifies genetic counseling and germline testing and reduces healthcare costs. Although challenging, the nationwide implementation of this workflow was successful, resulting in tumor-DNA testing rates exceeding 80%. In this article, we present our structured implementation approach, illustrate our implementation strategies-which were tailored to identified factors important to implementation-and share the lessons learned from the Tumor-First implementation project. This knowledge could facilitate the future implementation of workflows aimed at optimizing the recognition of hereditary cancers.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"429-436"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141173735","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

A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions. 关于毛发粘液瘤和纤维组织瘤患者 Birt-Hogg-Dubé 综合征基因转诊和诊断的回顾性队列研究。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-06-01 DOI: 10.1007/s10689-024-00402-2

Christina Shabet, Meera Kattapuram, Anna Burton, Renata Thoeny, Hailey Nielsen, Marie Louise Accardo, Emily H Smith, Erika Koeppe, Tobias Else, Kelly B Cha

{"title":"A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.","authors":"Christina Shabet, Meera Kattapuram, Anna Burton, Renata Thoeny, Hailey Nielsen, Marie Louise Accardo, Emily H Smith, Erika Koeppe, Tobias Else, Kelly B Cha","doi":"10.1007/s10689-024-00402-2","DOIUrl":"10.1007/s10689-024-00402-2","url":null,"abstract":"Background: Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in benign skin lesions, spontaneous pneumothorax, and increased risk for a variety of renal tumors. Skin manifestations of BHD include trichodiscoma (TD) and fibrofolliculoma (FF), which may represent the same pathologic entity. These lesions can identify BHD patients, who upon positive genetic testing can be considered for life-long surveillance for renal neoplasms.Objective: To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral.Methods: Retrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results.Results: 64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN.Conclusion: Providers should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"543-550"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141186325","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

MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence. MSH6缺陷隐窝病灶在MSH6受体错配修复缺陷中的应用：将一个移帧编码微卫星还原为野生型序列。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-10-10 DOI: 10.1007/s10689-024-00423-x

Jinru Shia, Francisco Sanchez-Vega, Stanley Cho, Jie-Fu Chen, Chin-Tung Chen, Umesh Bhanot, Nil Urganci, Canan Firat, Peter Ntiamoah, Raymond A Isidro, Amitabh Srivastava, Martin R Weiser, Diana Mandelker, Efsevia Vakiani, C Richard Boland, Julio Garcia-Aguilar, Zsofia K Stadler

{"title":"MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence.","authors":"Jinru Shia, Francisco Sanchez-Vega, Stanley Cho, Jie-Fu Chen, Chin-Tung Chen, Umesh Bhanot, Nil Urganci, Canan Firat, Peter Ntiamoah, Raymond A Isidro, Amitabh Srivastava, Martin R Weiser, Diana Mandelker, Efsevia Vakiani, C Richard Boland, Julio Garcia-Aguilar, Zsofia K Stadler","doi":"10.1007/s10689-024-00423-x","DOIUrl":"10.1007/s10689-024-00423-x","url":null,"abstract":"The discovery of \"mismatch repair deficient (MMRd)-crypt foci\" in non-neoplastic intestinal mucosa in Lynch syndrome (LS) has significantly enhanced our understanding of how tumors and tumor immunity form and evolve in LS. In this study, we report the frequent presence of \"mismatch repair proficient (MMRp)-crypt foci\" in both non-neoplastic and neoplastic intestinal mucosa in a patient with constitutional MMR deficiency (CMMRD), who carried a germline MSH6 pathogenic variant (c.3261dupC) in trans with an MSH6 likely pathogenic variant (c.3724_3726del) and whose tissues were otherwise deficient in MMR globally. The MMRp-crypts occurred at a rate of 1.1/100 crypts in non-neoplastic intestinal mucosa and were readily discernible in adenomas > 1 cm. Sequencing analysis revealed normalization of the MSH6c.3261dupC variant in MMRp-adenoma crypts, indicating reverse frameshifting of the exon 5 C8 microsatellite. Interestingly but not surprisingly, the MMRp-adenoma crypts remained microsatellite-instability-high (MSI-H), and shared oncogenic APC mutations with the background MMRd-adenoma. Contrasting with MSH6-CMMRD, no PMS2-CMMRD individuals (0/5) harbored MMRp-crypts. In conclusion, our study documents distinct MMRp-crypts in MSH6-CMMRD, a phenomenon in keeping with MSH6 being a frequent target of MSI-H due to its coding microsatellite and suggesting that MSH6-CMMRD can potentially serve as a unique model system to further our understanding of MSH6's role in MSI-H tumor formation and evolution. Our findings also bear diagnostic implications; when using MMR immunohistochemistry as an ancillary tool in detecting CMMRD, awareness of these MMRp crypts can help avoid diagnostic pitfalls.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"569-577"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399847","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

Progress report: Peutz-Jeghers syndrome. 进展报告：Peutz-Jeghers 综合症。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-03-16 DOI: 10.1007/s10689-024-00362-7

Anne Marie Jelsig, John Gásdal Karstensen, Thomas V Overeem Hansen

引用次数: 0

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia. 一个再生障碍性贫血家族中的新型端粒酶逆转录酶基因突变。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-05-25 DOI: 10.1007/s10689-024-00399-8

M Virijevic, I Marjanovic, M Andjelkovic, Lj Jakovic, D Micic, A Bogdanovic, S Pavlovic

引用次数: 0

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients. 在巴西患者中将 PMS2CL 假基因的一个频繁变异错误地归类为 PMS2 功能缺失变异。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-06-20 DOI: 10.1007/s10689-024-00411-1

Anthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago, Rafael Canfield Brianese, Dirce Maria Carraro, Giovana Tardin Torrezan

{"title":"Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.","authors":"Anthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago, Rafael Canfield Brianese, Dirce Maria Carraro, Giovana Tardin Torrezan","doi":"10.1007/s10689-024-00411-1","DOIUrl":"10.1007/s10689-024-00411-1","url":null,"abstract":"PMS2, a Lynch Syndrome gene, presents challenges in genetic testing due to the existence of multiple pseudogenes. This study aims to describe a series of cases harboring a variant in the PMS2CL pseudogene that has been incorrectly assigned to PMS2 with different nomenclatures. We reviewed data from 647 Brazilian patients who underwent multigene genetic testing at a single center to identify those harboring the PMS2 V1:c.2186_2187delTC or V2:c.2182_2184delACTinsG variants, allegedly located at PMS2 exon 13. Gene-specific PCR and transcript sequencing was performed. Among the 647 individuals, 1.8% (12) carried the investigated variants, with variant allele frequencies ranging from 15 to 34%. By visually inspecting the alignments, we confirmed that both V1 and V2 represented the same variant and through gene-specific PCR and PMS2 transcript analysis, we demonstrated that V1/V2 is actually located in the PMS2CL pseudogene. Genomic databases (ExAC and gnomAD) report an incidence of 2.5 - 5.3% of this variant in the African population. Currently, V1 is classified as \"uncertain significance\" and V2 as \"conflicting\" in ClinVar, with several laboratories classifying them as \"pathogenic\". We identified a frequent African PMS2CL variant in the Brazilian population that is misclassified as a PMS2 variant. It is likely that V1/V2 have been erroneously assigned to PMS2 in several manuscripts and by clinical laboratories, underscoring a disparity-induced matter. Considering the limitations of short-read NGS differentiating between certain regions of PMS2 and PMS2CL, using complementary methodologies is imperative to provide an accurate diagnosis.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"653-657"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426676","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

Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy. 通过延迟输卵管切除术降低输卵管切除术的风险，以预防遗传风险增加的妇女患卵巢癌：对替代策略的见解。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-06-21 DOI: 10.1007/s10689-024-00412-0

T A Gootzen, M P Steenbeek, Mhd van Bommel, J IntHout, C M Kets, Rpmg Hermens, J A de Hullu

{"title":"Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy.","authors":"T A Gootzen, M P Steenbeek, Mhd van Bommel, J IntHout, C M Kets, Rpmg Hermens, J A de Hullu","doi":"10.1007/s10689-024-00412-0","DOIUrl":"10.1007/s10689-024-00412-0","url":null,"abstract":"Epithelial ovarian cancer (EOC) is the most lethal type of gynaecological cancer, due to lack of effective screening possibilities and because the disease tends to metastasize before onset of symptoms. Women with an increased inherited risk for EOC are advised to undergo a risk-reducing salpingo-oophorectomy (RRSO), which decreases their EOC risk by 96% when performed within guideline ages. However, it also induces premature menopause, which has harmful consequences. There is compelling evidence that the majority of EOCs originate in the fallopian tube. Therefore, a risk-reducing salpingectomy with delayed oophorectomy (RRS with DO) has gained interest as an alternative strategy. Previous studies have shown that this alternative strategy has a positive effect on menopause-related quality of life and sexual health when compared to the standard RRSO. It is hypothesized that the alternative strategy is non-inferior to the standard RRSO with respect to oncological safety (EOC incidence). Three prospective studies are currently including patients to compare the safety and/or quality of life of the two distinct strategies. In this article we discuss the background, opportunities, and challenges of the current and alternative strategy.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"437-445"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141436805","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