Familial Cancer最新文献

Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease. 家族性腺瘤性息肉病（FAP）指南：确定罕见疾病临床管理的挑战。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-04-07 DOI: 10.1007/s10689-025-00462-y

Benjamin Zare, Kevin J Monahan

{"title":"Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease.","authors":"Benjamin Zare, Kevin J Monahan","doi":"10.1007/s10689-025-00462-y","DOIUrl":"10.1007/s10689-025-00462-y","url":null,"abstract":"Recent updated management guidelines for Familial Adenomatous Polyposis (FAP) have been published by professional bodies internationally. These recommendations reflect the diverse needs and capabilities of varying health systems worldwide, including thresholds for intervention and population health priorities. Whilst guidelines are closely aligned in many regards, there are areas of disparity. However, alongside discrepancies in guideline recommendations, common challenges also face professional bodies across the globe. Generation of a robust evidence-base in the environment of limited data is difficult in rare diseases such as FAP, underscored by the fact that expert consensus opinion underpins virtually all guidelines. The presence of a wide phenotypic spectrum in FAP and the other hereditary gastrointestinal polyposis syndromes, whilst now well recognised, further complicates the creation of universal recommendations. In this review we draw comparison between the various international guidelines for the management of FAP, using examples to focus on thematic areas of agreement and divergence. However, beyond this, we also wish to highlight the persisting evidence gaps in clinical management, and any areas of ongoing debate among clinicians, where we are yet to establish the optimal approach.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 2","pages":"35"},"PeriodicalIF":1.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794552","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 European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers. 欧洲遗传肿瘤风险综合征参考网络（ERN GENTURIS）：对患者、家庭和卫生保健提供者的益处。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-30 DOI: 10.1007/s10689-025-00457-9

Manon Engels, Katarzyna Urbanczyk, Jurriaan Hölzenspies, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge

引用次数: 0

The patterns and spectrum of BRCA1 and BRCA2 mutations in Iranian breast and ovarian cancer patients. 伊朗乳腺癌和卵巢癌患者BRCA1和BRCA2突变的模式和谱

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-30 DOI: 10.1007/s10689-025-00459-7

Shayan Forghani, Hamid Reza Mirzaee, Hamid Rezvani, Arman Forghani, Fatemeh Mahdavi Sabet, Ali Hojjat, Mona Malekzadeh, Atieh Akbari, Sanaz Tabarestani

{"title":"The patterns and spectrum of BRCA1 and BRCA2 mutations in Iranian breast and ovarian cancer patients.","authors":"Shayan Forghani, Hamid Reza Mirzaee, Hamid Rezvani, Arman Forghani, Fatemeh Mahdavi Sabet, Ali Hojjat, Mona Malekzadeh, Atieh Akbari, Sanaz Tabarestani","doi":"10.1007/s10689-025-00459-7","DOIUrl":"https://doi.org/10.1007/s10689-025-00459-7","url":null,"abstract":"Women with inherited BRCA1/2 mutations are at increased risk of breast and ovarian cancer. The reports on the prevalence and spectrum of these mutations have been primarily focused on individuals with European ancestry. A previous study on Iranian breast cancer patients reported no BRCA1/2 mutation in early-onset breast cancer with no other criteria, which is contrary to other populations. The purpose of this study was to characterize the patterns of these mutations in Iranian breast and ovarian cancer patients and evaluate the predictive efficacy of the Manchester scoring system in patients and their unaffected family members. We retrospectively reviewed the genetic testing performed for breast and ovarian cancer patients and unaffected individuals with a positive family history. The study participants were selected based on the NCCN (National Comprehensive Cancer Network) criteria (version 2.2024). A total of 376 female breast cancer patients, 49 ovarian cancer patients, and 74 unaffected individuals were enrolled in this study. In breast cancer patients, 24 (6.4%) BRCA1 and 23 (6.1%) BRCA2 mutations were detected. In ovarian cancer patients, 9 (18.5%) BRCA1 and 1 (2%) BRCA2 mutations were identified. Three (4.1%) BRCA2 mutations were identified in unaffected individuals. Seven breast cancer patients with age of cancer diagnosis ≤ 40 and no other criteria (including family history) had an underlying mutation: Four BRCA2, and three BRCA1 mutations. The Manchester score performed well, with a sensitivity of 81% and a specificity of 70%. More research is needed to clarify the hereditary component of breast and ovarian cancer in Iranian patients.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 2","pages":"34"},"PeriodicalIF":1.8,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751946","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

Endometrial thickness among BRCA mutation carriers undergoing prophylactic oophorectomy. 预防性卵巢切除术中BRCA突变携带者的子宫内膜厚度。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-25 DOI: 10.1007/s10689-025-00458-8

Michelle Jacobson, Adrianna Klejnotowska, Ping Sun, Steven A Narod, Joanne Kotsopoulos

{"title":"Endometrial thickness among BRCA mutation carriers undergoing prophylactic oophorectomy.","authors":"Michelle Jacobson, Adrianna Klejnotowska, Ping Sun, Steven A Narod, Joanne Kotsopoulos","doi":"10.1007/s10689-025-00458-8","DOIUrl":"https://doi.org/10.1007/s10689-025-00458-8","url":null,"abstract":"It has been suggested that women with a pathogenic variant (mutation) in BRCA1 or BRCA2 are at a higher risk of developing high-grade endometrial cancer. Furthermore, significantly higher follicular (but lower luteal) endometrial thickness, a surrogate marker for endometroid adenocarcinoma risk, has been reported for this high-risk population. Given that medications known to affect endometrial thickness (i.e., tamoxifen, oral contraceptives) are often indicated for BRCA mutation carriers, it is important to elucidate substantial differences exist in carriers. Thus, we conducted a retrospective chart review of endometrial thickness among women with a BRCA1 or BRCA2 who had an intact uterus and were referred to a specialized ovarian cancer clinic between 2007 and 2016. Clinical data was collected from chart review, while endometrial thickness (millimeters; mm) was abstracted from transvaginal ultrasound reports with endometrial dating and compared to published levels in the general population. In total, 114 women were identified, 73 of whom were premenopausal and 41 who were postmenopausal. Among premenopausal women, the median follicular endometrial thickness found was 7.00 mm (n = 40, range 3-13) compared to 6.8 mm (range 2.4-14) in non-carriers and the median luteal endometrial thickness was 10.85 mm (n = 30, range 5-18), compared to 9.6 mm (range 3.3-18.2) in non-carriers. Among postmenopausal women, the median menopausal endometrial thickness was 4.0 mm (n = 41, range 1-18) compared to 4.0 mm (range 1-25) in non-carrier controls. Although based on small numbers, we found no significant difference in the endometrial thickness of BRCA mutation carriers versus non-carriers.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 2","pages":"32"},"PeriodicalIF":1.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709277","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

Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder. 阿扎胞苷和venetoclax治疗由潜在的端粒生物学紊乱引起的AML。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-22 DOI: 10.1007/s10689-025-00455-x

Arjun Pandey, Talia Mancuso, Lea Velsher, James A Kennedy

{"title":"Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder.","authors":"Arjun Pandey, Talia Mancuso, Lea Velsher, James A Kennedy","doi":"10.1007/s10689-025-00455-x","DOIUrl":"https://doi.org/10.1007/s10689-025-00455-x","url":null,"abstract":"Telomere biology disorders (TBDs) are a group of genetic conditions characterized by defects in telomere maintenance leading to multisystemic organ involvement and a predisposition to hematologic malignancies. The management of patients with TBDs who develop acute myeloid leukemia (AML) presents a significant challenge due to their limited bone marrow reserve and non-hematopoietic organ dysfunction. We present the case of a 45-year-old patient with a previously unrecognized TBD who presented with AML. The patient's history of longstanding cytopenias, idiopathic avascular necrosis, and pulmonary fibrosis were suggestive of a TBD, which was confirmed through telomere length testing and the presence of a TERT variant. Due to his underlying TBD, he was treated with dose-reduced azacitidine and venetoclax, adapting the approach commonly employed in elderly, co-morbid AML patients ineligible for intensive chemotherapy. This resulted in a complete remission with incomplete count recovery that has persisted for greater than 12 months to date. Aside from prolonged myelosuppression, the patient tolerated the regimen well with minimal toxicity. To our knowledge, this is the first report of the successful utilization of azacitidine and venetoclax as an AML treatment modality in TBD patients and underscores the potential of this regimen as an effective non-intensive treatment strategy for high grade myeloid neoplasms arising in the context of inherited bone marrow failure syndromes.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 2","pages":"31"},"PeriodicalIF":1.8,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691630","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

Correction: The genetic landscape of Lynch syndrome in the Israeli population. 更正：以色列人群中林奇综合征的遗传情况。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-21 DOI: 10.1007/s10689-025-00454-y

Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, Eitan Friedman, Elizabeth Half, Gabi Lidzbarsky, Gili Reznick Levi, Ido Laish, Lior Katz, Lily Bazak, Lilach Peled Peretz, Lina Basel Salmon, Liza Douiev, Marina Lifshitc Kalis, Menachem Schechter, Michal Barzily-Rokni, Nadra Nasser Samra, Naim Abu-Freha, Ofir Hagari-Bechar, Ori Segol, Samar Mattar, Sarit Farage Barhom, Shikma Mordechai, Shiri Shkedi Rafid, Stavit A Shalev, Tamar Peretz-Yablonski, Zohar Levi, Revital Bruchim, Chana Vinkler, Rinat Bernstein-Molho, Sari Lieberman, Yael Goldberg

引用次数: 0

The current status of care for families with Lynch syndrome in China. 中国Lynch综合征家庭照护现状

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-20 DOI: 10.1007/s10689-025-00452-0

Baoshuai Liu, Shouyu Pan, Xian Hua Gao

引用次数: 0

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk. PTEN Hamartoma 肿瘤综合征中的非浆液性卵巢癌：风险增加的额外证据。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-18 DOI: 10.1007/s10689-025-00453-z

Ane J Schei-Andersen, Vera M Witjes, Janet R Vos, Arjen R Mensenkamp, Anne van Altena, Jolanda Schieving, Michiel Simons, Janneke H M Schuurs-Hoeijmakers, Nicoline Hoogerbrugge

{"title":"Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.","authors":"Ane J Schei-Andersen, Vera M Witjes, Janet R Vos, Arjen R Mensenkamp, Anne van Altena, Jolanda Schieving, Michiel Simons, Janneke H M Schuurs-Hoeijmakers, Nicoline Hoogerbrugge","doi":"10.1007/s10689-025-00453-z","DOIUrl":"10.1007/s10689-025-00453-z","url":null,"abstract":"Increased hereditary cancer risk is one of the hallmarks of PTEN Hamartoma Tumor Syndrome (PHTS) which is caused by a pathogenic germline variant in PTEN. Case reports and some cohort studies have described ovarian cancer (OC) in PHTS patients. Previously, we observed an enrichment of non-serous OC in PHTS compared to sporadic cases (3% vs 1%). However, ovarian cancer is currently not considered a PHTS-related cancer. The aim of this study was to describe five PHTS patients with a pathogenic germline variant in PTEN with non-serous OC. Three of the non-serous OCs were mucinous carcinomas (49, 51 and 52 years) and two were malignant germ cell tumors (8 and 15 years) and all were diagnosed before genetic testing and PHTS diagnosis. In addition to OC, the described patients developed other PHTS-related benign and malignant lesions. We provide further evidence that non-serous ovarian cancer, especially mucinous, endometrioid and malignant germ cell tumors should be further investigated as potential PHTS-related cancers.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 2","pages":"28"},"PeriodicalIF":1.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656615","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

Optimizing MRI sequences and apparent diffusion coefficient parameters for small pancreatic ductal adenocarcinoma detection. 优化小胰腺导管腺癌的MRI序列和表观扩散系数参数。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-07 DOI: 10.1007/s10689-025-00447-x

Naoko Mori

引用次数: 0

Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting. 解决遗传性结直肠癌的不确定性：区域专家多学科小组会议的作用。

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-06 DOI: 10.1007/s10689-025-00451-1

Avani Varde, Terri McVeigh, Vicky Cuthill, Angela F Brady, Bianca DeSouza, Andrew Latchford, Kevin J Monahan

{"title":"Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting.","authors":"Avani Varde, Terri McVeigh, Vicky Cuthill, Angela F Brady, Bianca DeSouza, Andrew Latchford, Kevin J Monahan","doi":"10.1007/s10689-025-00451-1","DOIUrl":"10.1007/s10689-025-00451-1","url":null,"abstract":"There is frequent uncertainty in both the precise quantification of risk, and the application of clinical interventions, designed to mitigate increased heritable colorectal cancer (CRC) susceptibility. We evaluated the role of a collaborative specialist multidisciplinary team meeting (MDM) for familial and hereditary CRC, led by the St Mark's Hospital Centre for Familial Intestinal Cancer specifically in supporting the clinical management of uncertainty. A retrospective thematic analysis of meeting outcomes from inception in June 2020 until March 2023 was performed. Descriptive statistics were employed to ascertain clinicopathological data, clinical queries and whether MDM recommendations were outside the scope of current guidelines. In total 260 cases were discussed from 13 regional institutions. A prior personal history of cancer was present in 215 (82.6%), and a family history of CRC in 107(41.2%) and non-CRC 27(10.4%) cases. In thematic analysis uncertainty related to indications for genetic testing was considered in 148 (56.9%) of cases, with unexplained mismatch repair deficiency (u-dMMR) in 78 (30%) of cases, and resolution of molecular interpretation in 61 (23.5%). Surveillance related queries represented 55 (21.1%), and mainstreaming 29 (11%) of cases. Management was recommended beyond the scope of existing guidelines in 64 (24.6%) cases. This regional hereditary CRC MDM provides clinicians with support in areas of uncertainty in diagnosis and clinical management, supporting clinical decision-making where evidence and clinical guidelines may be limited. This model could be replicated to support complexity in clinical care in other geographical regions or other health conditions.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"26"},"PeriodicalIF":1.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566554","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