Familial Cancer最新文献_第5页

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome. 一名患有 Peutz-Jeghers 综合征的土耳其患者的体细胞 STK11 嵌合。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-06-01 DOI: 10.1007/s10689-024-00405-z

Mustafa Yilmaz, Ogun Bebek, Yavuzhan Colak, Ayberk Türkyılmaz

{"title":"Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.","authors":"Mustafa Yilmaz, Ogun Bebek, Yavuzhan Colak, Ayberk Türkyılmaz","doi":"10.1007/s10689-024-00405-z","DOIUrl":"10.1007/s10689-024-00405-z","url":null,"abstract":"Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, caused by germline variants in the serine/threonine kinase 11 (STK11) gene. However, mosaic variants in STK11 gene have been rarely described. A 25-year-old woman diagnosed with PJS due to multiple hamartomatous polyps in the gastrointestinal tract was referred to our clinic. In the molecular diagnosis, the patient was evaluated using the STK11 gene sequence analysis and multiplex ligation-dependent probe amplification (MLPA) method, which suggested no pathogenic variant to account for the clinical picture. Given that the clinical findings of the patient were consistent with those of PJS, the raw data from next-generation sequencing (NGS) were re-examined for mosaicism which led to the detection of a novel mosaic c.920 + 1G > T variant in STK11 gene with a rate of 23% (1860x). Deep read-level NGS was performed on buccal mucosa and polyp samples to determine mosaicism levels in other tissues. Variant frequencies were 29% (710x) and 31% (1301x), respectively. Mosaicism should be considered in cases with clear clinical diagnostic criteria, such as PJS, where the pathogenic variant cannot be detected by sequence analysis and MLPA methods. Identification of mosaicism in these patients is very important as it can have an impact on patient follow-up and genetic counseling for relatives.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"641-645"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141186327","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

Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer. 一名乳腺癌患者偶然被诊断出无症状布卢姆综合征。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-09-06 DOI: 10.1007/s10689-024-00420-0

Evgeny Suspitsin, Darya Eliseyeva, Olga Chiryaeva, Evgeniya Belogubova, Svetlana Aleksakhina, Anna Sokolenko, Evgeny Imyanitov

{"title":"Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer.","authors":"Evgeny Suspitsin, Darya Eliseyeva, Olga Chiryaeva, Evgeniya Belogubova, Svetlana Aleksakhina, Anna Sokolenko, Evgeny Imyanitov","doi":"10.1007/s10689-024-00420-0","DOIUrl":"10.1007/s10689-024-00420-0","url":null,"abstract":"Bloom syndrome (BS) is a rare genetic disorder caused by biallelic inactivation of the BLM gene, which usually manifests in childhood by significant growth retardation, immune deficiency, characteristic skin lesions, cancer predisposition and other distinguishable disease features. To our knowledge, all prior instances of BS have been identified via intentional analysis of patients with clinical suspicion for this disease or DNA testing of members of affected pedigrees. We describe an incidental finding of BS, which occurred upon routine germline DNA analysis of consecutive breast cancer patients. The person with the biallelic pathogenic BLM c.1642C>T (p.Gln548Ter) variant remained clinically healthy for 38 years until she developed breast cancer. Detailed examination of this woman, which was carried out after the genetic diagnosis, revealed mild features of BS. A sister chromatid exchange (SCE) test confirmed the presence of this syndrome. The tumor exhibited triple-negative receptor status, a high proliferation rate, a low tumor mutation burden (TMB), and a moderate level of chromosomal instability (homologous recombination deficiency (HRD) score = 29). The patient showed normal tolerability to radiotherapy and several regimens of cytotoxic therapy. Thus, some BS patients may remain undiagnosed due to the mild phenotype of their disease. BLM should be incorporated in gene panels utilized for germline DNA testing of cancer patients.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"659-664"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139722","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

Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report. Birt-Hogg-Dubé 综合征患者小于 3 厘米的肾细胞癌切除术后的转移性疾病病例报告。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-06-20 DOI: 10.1007/s10689-024-00408-w

L van Riel, C M Kets, L P van Hest, F H Menko, B G Boerrigter, S M Franken, R M F Wolthuis, H J Dubbink, P J Zondervan, R J A van Moorselaar, A C Houweling, I van de Beek

引用次数: 0

The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC) : May 23-24, 2023 Rockville, Maryland, United States. 第 17 届遗传性癌症社会心理问题国际会议（IMPAHC）：2023年5月23-24日，美国马里兰州罗克维尔。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 DOI: 10.1007/s10689-024-00396-x

引用次数: 0

Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery. 癌症风险评估的数字化创新使地区癌症遗传学服务得以大规模重新发展。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-07-01 DOI: 10.1007/s10689-024-00407-x

Alice Youngs, Andrea Forman, Marisa Elms, Kelly Kohut, Min Theik Hlaing, John Short, Helen Hanson, Katie Snape

{"title":"Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.","authors":"Alice Youngs, Andrea Forman, Marisa Elms, Kelly Kohut, Min Theik Hlaing, John Short, Helen Hanson, Katie Snape","doi":"10.1007/s10689-024-00407-x","DOIUrl":"10.1007/s10689-024-00407-x","url":null,"abstract":"Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"591-598"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491484","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

Complications of colonoscopy surveillance of patients with Lynch syndrome - 33 years of follow up. 林奇综合征患者结肠镜检查监测并发症 - 33 年的随访。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 DOI: 10.1007/s10689-024-00416-w

Alexander Frank, Sophie Walton Bernstedt, Nigin Jamizadeh, Anna Forsberg, Charlotte Hedin, Johannes Blom, Ann-Sofie Backman

{"title":"Complications of colonoscopy surveillance of patients with Lynch syndrome - 33 years of follow up.","authors":"Alexander Frank, Sophie Walton Bernstedt, Nigin Jamizadeh, Anna Forsberg, Charlotte Hedin, Johannes Blom, Ann-Sofie Backman","doi":"10.1007/s10689-024-00416-w","DOIUrl":"10.1007/s10689-024-00416-w","url":null,"abstract":"Background and study aims: Lynch syndrome (LS) is a hereditary autosomal dominant condition, with an increased lifetime risk of developing malignancies including colorectal cancer (CRC). Current guidelines differ in recommended colonoscopy-surveillance intervals from 1 to 2 years. Although colonoscopy is considered a safe procedure, there are risks of severe adverse events (SAEs), such as perforation and bleeding, as well as adverse events (AEs), such as abdominal discomfort and post-colonoscopy gastrointestinal infections. Colonoscopy-related bleeding and perforation rates have been reported 0.17% and 0.11%, respectively. However, there are insufficient data regarding complications of colonoscopy-surveillance for LS patients. This study aims to investigate the risk of AEs among LS patients during colonoscopy in the Stockholm region.Patients and methods: This retrospective cohort study includes 351 LS patients undergoing endoscopic surveillance at the Karolinska University Hospital, August 1989 - April 2021. Data from endoscopic surveillance colonoscopies were extracted from patients' medical records.Results: Of 1873 endoscopies in 351 LS patients, 12 complications (AEs) were documented within 30 days (0.64%) and with a total of 3 bleedings (SAEs, 0.16%). No perforations were identified.Conclusion: Colonoscopy surveillance for LS patients shows a comparatively low risk of AEs per-examination. Colonoscopy complications per-patient, including both SAEs and AEs, show a significantly higher risk. Colonoscopy complications only including SAEs, show a comparatively low risk. Understanding the lifetime risk of surveillance-related colonoscopy complications is important when designing targeted surveillance programmes.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"599-605"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888913","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

High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients. 大量减少生育能力的肿瘤和手术，但没有证据表明女性林奇综合征患者会出现卵巢早衰。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-01-27 DOI: 10.1007/s10689-024-00357-4

Sabine Biermann, Michael Knapp, Peter Wieacker, Stefan Aretz, Verena Steinke-Lange

{"title":"High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients.","authors":"Sabine Biermann, Michael Knapp, Peter Wieacker, Stefan Aretz, Verena Steinke-Lange","doi":"10.1007/s10689-024-00357-4","DOIUrl":"10.1007/s10689-024-00357-4","url":null,"abstract":"Lynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which have also been shown to play an important role in meiosis. Therefore, it was hypothesized, that LS might be associated with a higher risk for premature ovarian failure (POF) or earlier menopause. Data on medical gynaecological history, cancer diagnoses and therapy were collected from 167 female LS patients and compared to a population-based control cohort. There was no difference between the age of menopause in patients compared to controls and no evidence for a higher risk of POF in LS patients. However, around one third (35%) of the probands have already had premenopausal cancer and mostly cancer-related treatment affecting fertility before the age of 45 years. Therefore, childbearing time might still be limited in these patients, especially due to the premenopausal cancer risk. LS patients should be informed in time about the elevated premenopausal cancer risks and the possible impact on family planning. This is particularly relevant since the average childbearing age has increased during the last decades.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"473-478"},"PeriodicalIF":1.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139570136","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

Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome 一个家族中的 TP53 基因 p.R181H 变异，体现了李-弗劳米尼综合征基因型与表型的相关性

IF 2.2 4区医学

Familial Cancer Pub Date : 2024-09-11 DOI: 10.1007/s10689-024-00419-7

Claire Freycon, Laura Palma, Crystal Budd, Frederic Coulombe, Leora Witkowski, Pierre Hainaut, William D. Foulkes, Catherine Goudie

{"title":"Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome","authors":"Claire Freycon, Laura Palma, Crystal Budd, Frederic Coulombe, Leora Witkowski, Pierre Hainaut, William D. Foulkes, Catherine Goudie","doi":"10.1007/s10689-024-00419-7","DOIUrl":"https://doi.org/10.1007/s10689-024-00419-7","url":null,"abstract":"Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline pathogenic/likely pathogenic variants in TP53. Genotype-phenotype correlations are progressively being characterized in LFS with certain TP53 variants associated with attenuated penetrance and phenotypes. We report on a family harboring a TP53 p.R181H variant presenting with a restricted cancer phenotype in adulthood. The proband was a female with breast cancer at the age of 71 years who had three first degree relatives also diagnosed with breast cancer after the age of 40 years (mother, two sisters). Of the nine individuals harboring the variant (6 genetically confirmed, 3 obligate heterozygous), six have not developed malignancies at this time (age range: 36–42). No childhood-onset cancers were reported in this family. A concomitant literature review identified 51 additional individuals harboring the p.R181H variant in TP53, presenting a tumor phenotype dominated by breast cancer. Rare occurrences of other adult-onset cancers (prostate, colorectal and thyroid) and only few childhood onset cancer were documented. These observations are consistent with functional analysis showing that p.R181H retains partial p53 function and suggesting possible reduced cancer penetrance, particularly in the pediatric setting.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"77 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142176695","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

Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1 通过内镜筛查识别 CDH1 基因致病变异携带者的标志环细胞胃癌病灶

IF 2.2 4区医学

Familial Cancer Pub Date : 2024-09-11 DOI: 10.1007/s10689-024-00421-z

Lady Katherine Mejia Perez, Margaret O’Malley, Arjun Chatterjee, Ruishen Lyu, Qijun Yang, Michael W. Cruise, Lisa LaGuardia, David Liska, Carole Macaron, R. Matthew Walsh, Carol A. Burke

{"title":"Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1","authors":"Lady Katherine Mejia Perez, Margaret O’Malley, Arjun Chatterjee, Ruishen Lyu, Qijun Yang, Michael W. Cruise, Lisa LaGuardia, David Liska, Carole Macaron, R. Matthew Walsh, Carol A. Burke","doi":"10.1007/s10689-024-00421-z","DOIUrl":"https://doi.org/10.1007/s10689-024-00421-z","url":null,"abstract":"To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 pathogenic variant (PV) undergoing gastrectomy. To evaluate the development of advanced diffuse gastric cancer (DGC) in patients choosing surveillance. Guidelines recommend prophylactic total gastrectomy (pTG) in CDH1 PV carriers with family history of DGC between 18 and 40 years. Annual EGD with biopsies according to established protocols is recommended in carriers with no SRC and no family history of DGC, with consideration of pTG. Retrospective analysis of asymptomatic patients with CDH1 PVs with ≥ 1 surveillance EGD. Outcomes included pre-operative EGD detection of SRC, surgical stage, and progression to advanced DGC in those electing surveillance with EGD. 48 patients with CDH1 PVs who had ≥ 1 EGD were included. 24/ 48 (50%) underwent gastrectomy, including pTG in 7 patients. SRCC were detected on gastrectomy specimen in 21/24 (87.5%). SRCs were identified by EGD in 17/21 patients who had SRCC on gastrectomy specimens (sensitivity 81%, 17/21). All cancers were stage pT1a. The remaining 17 patients (50% with a family history of gastric cancer) continue in annual EGD surveillance with a median follow-up of 34.6 months. No SRCC or advanced DGC have been diagnosed. No CDH1 PV carriers without SRCC on random biopsies followed in an endoscopic program developed advanced DGC over a median follow up of 3 years. In the short term, EGD surveillance might be a safe alternative to immediate pTG in experienced hands in referral centers.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"87 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142176694","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

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review. 一名生殖系 BRCA2 变异携带者的胰腺尖细胞癌对铂和奥拉帕尼治疗的反应：病例报告和文献综述。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI: 10.1007/s10689-024-00390-3

Hiroyuki Matsubayashi, Akiko Todaka, Takahiro Tsushima, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Satomi Higashigawa, Nobuyuki Ohike, Hiroki Sakamoto, Junya Sato, Hirotoshi Ishiwatari, Teichi Sugiura, Katsuhiko Uesaka

引用次数: 0