Familial Cancer最新文献_第9页

PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer. PREMM5区分散发性和林奇综合征相关的MMR缺乏/MSI高结直肠癌癌症。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-08-12 DOI: 10.1007/s10689-023-00345-0

Renata L Sandoval, Miki Horiguchi, Chinedu Ukaegbu, C Sloane Furniss, Hajime Uno, Sapna Syngal, Matthew B Yurgelun

{"title":"PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer.","authors":"Renata L Sandoval, Miki Horiguchi, Chinedu Ukaegbu, C Sloane Furniss, Hajime Uno, Sapna Syngal, Matthew B Yurgelun","doi":"10.1007/s10689-023-00345-0","DOIUrl":"10.1007/s10689-023-00345-0","url":null,"abstract":"Current algorithms for diagnosing Lynch syndrome (LS) include multistep molecular tumor tests to distinguish LS-associated from sporadic colorectal cancer (CRC), which add cost and complexity to the evaluation. We hypothesized that PREMM5, a clinical LS prediction tool, could be an alternative approach to screen for LS, thereby lessening the need for specialized molecular diagnostics. We reviewed a consecutively ascertained institutional cohort of 1058 CRC patients on whom pathologic and clinical data were available, including prior LS germline testing. Data from MMR-D/MSI-H CRC patients were reviewed and PREMM5 scores were calculated for each individual. Using a PREMM5 score cutoff ≥ 2.5% to characterize the need for germline testing, we determined the rate of pathogenic/likely pathogenic germline variants (PGVs) in LS genes in patients with PREMM5 scores ≥ 2.5% versus < 2.5%. Sensitivity and negative predictive values (NPV) of PREMM5 were calculated for all MMR-D/MSI-H CRC patients, and those with MLH1-deficient CRC. MMR IHC and/or MSI results were available on 572/1058 cases. We identified 74/572 (12.9%) cases as MMR-D/MSI-H, of which 28/74 (37.8%) harbored a LS PGV. 11/49 (22.4%) patients with MLH1-deficient CRC harbored a LS PGV. PREMM5 had 100% sensitivity (95% CI: 87.7-100 for any MMR-D/MSI-H; 95% CI: 71.5-100 for MLH1-deficient CRC) and 100% NPV (95% CI: 83.2-100 for any MMR-D/MSI-H; 95% CI: 82.4-100 for MLH1-deficient CRC) for identifying LS PGVs in these cohorts. PREMM5 accurately distinguishes LS- from non-LS-associated MMR-D/MSI-H CRC without additional somatic molecular testing. These findings are particularly relevant for limited-resource settings where advanced molecular diagnostics may be unavailable.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"459-465"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10035823","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

Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer. 癌症对林奇综合征跨性别和不同性别患者的监测：美洲癌症遗传性胃肠道癌症合作小组的实践资源。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-06-21 DOI: 10.1007/s10689-023-00341-4

Rachel Hodan, Linda Rodgers-Fouche, Anu Chittenden, Mev Dominguez-Valentin, James Ferriss, Lauren Gima, Ole-Petter R Hamnvik, Gregory E Idos, Kevin Kline, Diane R Koeller, Jessica M Long, Danielle McKenna, Charles Muller, Maxton Thoman, Anton Wintner, Bronwyn S Bedrick

{"title":"Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.","authors":"Rachel Hodan, Linda Rodgers-Fouche, Anu Chittenden, Mev Dominguez-Valentin, James Ferriss, Lauren Gima, Ole-Petter R Hamnvik, Gregory E Idos, Kevin Kline, Diane R Koeller, Jessica M Long, Danielle McKenna, Charles Muller, Maxton Thoman, Anton Wintner, Bronwyn S Bedrick","doi":"10.1007/s10689-023-00341-4","DOIUrl":"10.1007/s10689-023-00341-4","url":null,"abstract":"Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and obtaining appropriate cancer surveillance and risk-reducing procedures. There is a lack of care provider knowledge about TGD health management. Lynch syndrome (LS) is one of the most common hereditary cancer syndromes, affecting an estimated 1 in 279 individuals. There are no clinical guidelines specific for TGD individuals with LS, highlighting a need to improve the quality of care for this population. There is an urgent need for cancer surveillance recommendations for TGD patients. This commentary provides recommendations for cancer surveillance, risk-reducing strategies, and genetic counseling considerations for TGD patients with LS.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"437-448"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9669219","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

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study. 青少年息肉病综合征患者的全基因组测序和疾病模式：一项全国性研究。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-06-24 DOI: 10.1007/s10689-023-00338-z

Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Ken Ljungmann, Louise Torp Christensen, Karina Rønlund, Pernille Mathiesen Tørring, Birgitte Bertelsen, Lone Sunde, John Gásdal Karstensen

{"title":"Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.","authors":"Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Ken Ljungmann, Louise Torp Christensen, Karina Rønlund, Pernille Mathiesen Tørring, Birgitte Bertelsen, Lone Sunde, John Gásdal Karstensen","doi":"10.1007/s10689-023-00338-z","DOIUrl":"10.1007/s10689-023-00338-z","url":null,"abstract":"Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased risk of gastrointestinal cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however in a significant number of patients with JPS, the etiology is unknown. From Danish registers, and genetic department and laboratories, we identified all patients in Denmark with a clinical diagnosis of JPS and/or a pathogenic variant in BMPR1A or SMAD4. In patients where no variant had been detected, we performed genetic analysis, including whole genome sequencing. We collected clinical information on all patients to investigate the phenotypic spectrum. Sixty-six patients (mean age 40 years) were included of whom the pathogenic variant was unknown in seven patients. We detected a pathogenic variant in SMAD4 or PTEN in additional three patients and thus ≈ 95% of patients had a pathogenic germline variant. Endoscopic information was available in fifty-two patients (79%) and of these 31 (60%) fulfilled the clinical criteria of JPS. In 41 patients (79%), other types of polyps than juvenile had been removed. Our results suggest that almost all patients with a clinical diagnosis of JPS has a pathogenic variant in mainly BMPR1A, SMAD4, and more rarely PTEN. However, not all patients with a pathogenic variant fulfil the clinical criteria of JPS. We also demonstrated a wide clinical spectrum, and that the histopathology of removed polyps varied.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"429-436"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9671797","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

Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant. 结合CDH1的临床和分子特征：一种多学科方法对剪接变异体进行重新分类。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-08-04 DOI: 10.1007/s10689-023-00346-z

Corrine Fillman, Arravinth Anantharajah, Briana Marmelstein, Monica Dillon, Carolyn Horton, Candace Peterson, Joseph Lopez, Rashmi Tondon, Terra Brannan, Bryson W Katona

{"title":"Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.","authors":"Corrine Fillman, Arravinth Anantharajah, Briana Marmelstein, Monica Dillon, Carolyn Horton, Candace Peterson, Joseph Lopez, Rashmi Tondon, Terra Brannan, Bryson W Katona","doi":"10.1007/s10689-023-00346-z","DOIUrl":"10.1007/s10689-023-00346-z","url":null,"abstract":"Pathogenic germline variants (PGVs) in the CDH1 gene are associated with diffuse gastric and lobular breast cancer syndrome (DGLBC) and can increase the lifetime risk for both diffuse gastric cancer and lobular breast cancer. Given the risk for diffuse gastric cancer among individuals with CDH1 PGVs is up to 30-40%, prophylactic total gastrectomy is often recommended to affected individuals. Therefore, accurate interpretation of CDH1 variants is of the utmost importance for proper clinical decision-making. Herein we present a 45-year-old female, with lobular breast cancer and a father with gastric cancer of unknown pathology at age 48, who was identified to have an intronic variant of uncertain significance in the CDH1 gene, specifically c.833-9 C > G. Although the proband did not meet the International Gastric Cancer Linkage Consortium (IGCLC) criteria for gastric surveillance, she elected to pursue an upper endoscopy where non-targeted gastric biopsies identified a focus of signet ring cell carcinoma (SRCC). The proband then underwent a total gastrectomy, revealing numerous SRCC foci, but no invasive diffuse gastric cancer. Simultaneously, a genetic testing laboratory performed RNA sequencing to further analyze the CDH1 intronic variant, identifying an abnormal transcript from a novel acceptor splice site. The RNA analysis in conjunction with the patient's gastric foci of SRCC and family history was sufficient evidence for reclassification of the variant from uncertain significance to likely pathogenic. In conclusion, we report the first case of the CDH1 c.833-9 C > G intronic variant being associated with DGLBC and illustrate how collaboration among clinicians, laboratory personnel, and patients is crucial for variant resolution.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"521-526"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9989126","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

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report. MSH6的马赛克致病性变体导致一名被归类为疑似林奇综合征的患者患上MSH6缺乏的结直肠癌和子宫内膜癌症：一份病例报告。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-06-15 DOI: 10.1007/s10689-023-00337-0

Romy Walker, Mark Clendenning, Jihoon E Joo, Jessie Xue, Khalid Mahmood, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, James M Chan, Mark A Jenkins, Christophe Rosty, Finlay A Macrae, Stephanie Di Palma, Ainsley Campbell, Ingrid M Winship, Daniel D Buchanan

{"title":"A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.","authors":"Romy Walker, Mark Clendenning, Jihoon E Joo, Jessie Xue, Khalid Mahmood, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, James M Chan, Mark A Jenkins, Christophe Rosty, Finlay A Macrae, Stephanie Di Palma, Ainsley Campbell, Ingrid M Winship, Daniel D Buchanan","doi":"10.1007/s10689-023-00337-0","DOIUrl":"10.1007/s10689-023-00337-0","url":null,"abstract":"Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. However, mosaic variants in the MMR genes have been rarely described. We identified a likely de novo mosaic MSH6:c.1135_1139del p.Arg379* pathogenic variant in a patient diagnosed with suspected Lynch syndrome/Lynch-like syndrome. The patient developed MSH6-deficient EC and CRC at 54 and 58 years of age, respectively, without a detectable germline MMR pathogenic variant. Multigene panel sequencing of tumor and blood-derived DNA identified an MSH6 somatic mutation (MSH6:c.1135_1139del p.Arg379*) common to both the EC and CRC, raising suspicion of mosaicism. A droplet digital polymerase chain reaction (ddPCR) assay detected the MSH6 variant at 5.34% frequency in normal colonic tissue, 3.49% in saliva and 1.64% in blood DNA, demonstrating the presence of the MSH6 variant in all three germ layers. This study highlights the utility of tumor sequencing to guide sensitive ddPCR testing to detect low-level mosaicism in the MMR genes. Further investigation of the prevalence of MMR mosaicism is needed to inform routine diagnostic approaches and genetic counselling.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"423-428"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9632818","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

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis. 两种种种系DICER1剪接变异体的重新分类导致DICER1综合征的诊断。

IF 1.8 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-05-30 DOI: 10.1007/s10689-023-00336-1

Maria Apellaniz-Ruiz, Nelly Sabbaghian, Anne-Laure Chong, Leanne de Kock, Semra Cetinkaya, Elvan Bayramoğlu, Winand N M Dinjens, W Glenn McCluggage, Anja Wagner, Aslihan Arasli Yilmaz, William D Foulkes

{"title":"Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.","authors":"Maria Apellaniz-Ruiz, Nelly Sabbaghian, Anne-Laure Chong, Leanne de Kock, Semra Cetinkaya, Elvan Bayramoğlu, Winand N M Dinjens, W Glenn McCluggage, Anja Wagner, Aslihan Arasli Yilmaz, William D Foulkes","doi":"10.1007/s10689-023-00336-1","DOIUrl":"10.1007/s10689-023-00336-1","url":null,"abstract":"DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients suspected to have DICER1 syndrome. Both females (aged 13 and 15 years) presented with multinodular goiter (thyroid follicular nodular disease) and ovarian tumours. One was diagnosed with an ovarian Sertoli-Leydig cell tumour (SLCT) and the other, with an ovarian juvenile granulosa cell tumour, later reclassified as a retiform variant of SLCT. Genetic screening showed no germline pathogenic variants in DICER1. However, two potentially splicing variants were found, DICER1 c.5365-4A>G and c.5527+3A>G. Also, typical somatic DICER1 RNase IIIb hotspot mutations were detected in the thyroid and ovarian tissues. In silico splicing algorithms predicted altered splicing for both germline variants and skipping of exon 25 was confirmed by RNA assays for both variants. The reclassification of the ovarian tumour, leading to recognition of the association with DICER1 syndrome and the characterization of the germline intronic variants were all applied to recently described DICER1 variant classification rules. This ultimately resulted in confirmation of DICER1 syndrome in the two teenage girls.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"487-493"},"PeriodicalIF":1.8,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9911774","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

Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed. 林奇综合征的结肠镜检查监测是繁重的，并且经常延迟。

IF 1.8 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-05-12 DOI: 10.1007/s10689-023-00333-4

Elsa L S A van Liere, Imke L Jacobs, Evelien Dekker, Maarten A J M Jacobs, Nanne K H de Boer, Dewkoemar Ramsoekh

{"title":"Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed.","authors":"Elsa L S A van Liere, Imke L Jacobs, Evelien Dekker, Maarten A J M Jacobs, Nanne K H de Boer, Dewkoemar Ramsoekh","doi":"10.1007/s10689-023-00333-4","DOIUrl":"10.1007/s10689-023-00333-4","url":null,"abstract":"Individuals with Lynch syndrome have an increased colorectal cancer risk, hence, biennial colonoscopy surveillance is recommended. We aimed to investigate patients' perception and preferences regarding surveillance, and to further explore compliance behaviour. Individuals with Lynch syndrome received a validated survey evaluating experiences of their three most recent colonoscopies. Individuals were non-compliant to surveillance if the interval between colonoscopies differed ≥ 6 months from the recommended interval. In total, 197 of 291 (68%) invited individuals returned the survey. They mostly underwent colonoscopy biennially (99%), under mild sedation (79%) and with bowel preparation performed by Moviprep® (99%). Surveillance was perceived as impacting quality of life in 21%, and as moderately to extremely burdensome in 57%, particularly in those below age 40. To lower the burden, patients prioritised improvements in volume and taste of bowel preparation, laxation-related bowel movements, waiting times, and a more personal and respectful approach of endoscopic staff. Additionally, many individuals (60%) would favour less-invasive surveillance modalities such as biomarkers. In total, 28% of individuals had delayed colonoscopy surveillance, predominantly for patient-related reasons. An additional 10% considered quitting/postponing surveillance. Upon multivariable analysis, patient-related delay was associated with low and medium education, history of ≤ 4 colonoscopies and having no hospital recall-system. Colonoscopy surveillance in Lynch syndrome is often experienced as burdensome, and frequently delayed. We identified determinants of surveillance behaviour in this population, and present potential interventions to reduce the burden and non-compliance rates.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"403-411"},"PeriodicalIF":1.8,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9819610","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

Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome. 家族性腺瘤性息肉病综合征的内镜和化学预防性治疗。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-04-29 DOI: 10.1007/s10689-023-00334-3

J K Stone, N A Mehta, H Singh, W El-Matary, C N Bernstein

{"title":"Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome.","authors":"J K Stone, N A Mehta, H Singh, W El-Matary, C N Bernstein","doi":"10.1007/s10689-023-00334-3","DOIUrl":"10.1007/s10689-023-00334-3","url":null,"abstract":"Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing affected individuals to gastrointestinal (GI) cancers through a high burden of polyposis. Colorectal cancer rates reach 100% by the age of 45, making early colectomy a mainstay of treatment. While most patients undergo colectomy at an early age, ongoing screening and surveillance of the upper gastrointestinal tract and rectal pouch must continue throughout adulthood. Endoscopic therapy of gastric, duodenal, ampullary and rectal pouch polyps is critical to reduce morbidity and cancer related mortality. Management of these lesions is not uniform, and is dependent on their location, size, histology, and risk of malignant potential. Medical therapies targeting pathways that reduce the malignant progression of pre-cancerous lesions have been studied for many years. While studies on the use of aspirin and non-steroidal anti-inflammatories (NSAIDs) in chemoprevention have shown encouraging results in Lynch syndrome and primary colorectal cancer, the potential benefits of these medications have not been duplicated in FAP cohorts. While data remains limited on chemoprevention in FAP, a number of randomized trials are currently underway examining targeted therapies with the potential to slow the progression of the disease. This review aims to provide an in-depth review of the literature on current endoscopic options and chemopreventive therapies targeting FAP. While the endoscopic management has robust data for its use, chemoprevention in FAP is still in its infancy. The complementary use of chemopreventive agents and endoscopic therapy for FAP patients is quickly becoming a growing and exciting area of research.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"413-422"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9364384","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

Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon's practice in a large US Academic Center. 癌症患者的主流基因检测：美国大型学术中心一位外科医生的实践经验。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-06-24 DOI: 10.1007/s10689-023-00342-3

Teresa S Chai, Kanhua Yin, Mackenzie Wooters, Kristen M Shannon, Kevin S Hughes

{"title":"Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon's practice in a large US Academic Center.","authors":"Teresa S Chai, Kanhua Yin, Mackenzie Wooters, Kristen M Shannon, Kevin S Hughes","doi":"10.1007/s10689-023-00342-3","DOIUrl":"10.1007/s10689-023-00342-3","url":null,"abstract":"This study evaluated the impact of mainstreamed genetic testing (MGT) on the timing and uptake of testing in an academic breast surgeon's practice. Before September 2019 (pre-MGT phase), a breast surgery practice at Massachusetts General Hospital followed a traditional model of a pre-test consultation with a genetic counselor (GC) following a referral. After September 2019 (post-MGT phase), the same practice offered patients genetic testing in a single clinical encounter with a breast surgeon. We evaluated the waiting time between referral and GC visit in the pre-MGT phase and compared the uptake and positivity rates between both phases. In the pre-MGT phase (204 patients), the median waiting time for GC visit was seven days for patients with a newly diagnosed cancer, 211 days for patients with a personal history of cancer, and 224 days for non-cancer patients who had a family history. A total of 105 (51.5%) patients completed a GC appointment. In the post-MGT phase (202 patients), a significantly higher proportion of patients (88.1%, p < 0.001) consented to genetic testing, while the proportion of patients who tested positive was lower (pathogenic variant: 11.9% vs. 20.0%; variant of uncertain significance: 19.9% vs. 28.0%; p = 0.047). Implementing MGT can reduce the number of clinical visits, significantly shorten patients' wait time to test initiation, and increase the completion of genetic testing. Successful integration of this model relied on the genetic expertise of the breast surgeon involved and the support of the GC team.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"467-474"},"PeriodicalIF":2.2,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9671798","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: 2

Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study. Li-Fraumeni综合征患者参与癌症预防试验的意愿：一项调查研究。

IF 2.2 4区医学

Familial Cancer Pub Date : 2023-10-01 Epub Date: 2023-06-23 DOI: 10.1007/s10689-023-00339-y

Farina J Struewe, Sarah Schott, Martina de Zwaan, Christian P Kratz

引用次数: 0