The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers [0.03%]
欧洲遗传肿瘤风险综合征参考网络(ERN GENTURIS)：对患者、家属和卫生保健提供者的好处
Manon Engels,Katarzyna Urbanczyk,Jurriaan Hölzenspies et al.
Manon Engels et al.
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) established in 2017 and connecting more than 50 European expert centres improves access to diagnosis, treatment, and the provision of high-quality healthcare for...
The patterns and spectrum of BRCA1 and BRCA2 mutations in Iranian breast and ovarian cancer patients [0.03%]
伊朗乳腺癌和卵巢癌症病人的BRCA1和BRCA2基因突变类型与频谱分析
Shayan Forghani,Hamid Reza Mirzaee,Hamid Rezvani et al.
Shayan Forghani et al.
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 ...
Endometrial thickness among BRCA mutation carriers undergoing prophylactic oophorectomy [0.03%]
接受预防性卵巢切除术的BRCA突变携带者的子宫内膜厚度研究
Michelle Jacobson,Adrianna Klejnotowska,Ping Sun et al.
Michelle Jacobson et al.
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,...
Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder [0.03%]
地西他滨和维奈托克联用治疗源于端粒生物学紊乱的急性髓系白血病
Arjun Pandey,Talia Mancuso,Lea Velsher et al.
Arjun Pandey et al.
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 wit...
Case Reports
Familial cancer. 2025 Mar 22;24(2):31. DOI:10.1007/s10689-025-00455-x 2025
Baoshuai Liu,Shouyu Pan,Xian Hua Gao
Baoshuai Liu
Lynch syndrome is one of the most common hereditary cancer predisposition syndromes, which is caused by germline pathogenic variants in mismatch repair genes. It is associated with increased risks of colorectal cancer, endometrial cancer an...
Correction: The genetic landscape of Lynch syndrome in the Israeli population [0.03%]
修正：以色列人群中林奇综合症的遗传特征研究
Aasem Abu Shtaya,Sofia Naftaly Nathan,Inbal Kedar et al.
Aasem Abu Shtaya et al.
Published Erratum
Familial cancer. 2025 Mar 21;24(2):30. DOI:10.1007/s10689-025-00454-y 2025
Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk [0.03%]
PTEN错构瘤肿瘤综合征中发生的非严重卵巢癌症：进一步证据表明其发生风险增加
Ane J Schei-Andersen,Vera M Witjes,Janet R Vos et al.
Ane J Schei-Andersen et al.
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 patie...
Case Reports
Familial cancer. 2025 Mar 18;24(2):28. DOI:10.1007/s10689-025-00453-z 2025
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting [0.03%]
解决遗传性结直肠癌的不确定性：区域专家多学科团队会议的作用
Avani Varde,Terri McVeigh,Vicky Cuthill et al.
Avani Varde et al.
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 collaborati...
Healthcare provider-mediated cascade testing of Lynch syndrome to at-risk family members: an interview study [0.03%]
通过医疗提供者对林奇综合症进行级联检测的访谈研究
Serene Ong,Zi Yang Chua,Jeanette Yuen et al.
Serene Ong et al.
Cascade testing is often recommended for cancer predisposition syndromes, like Lynch syndrome (LS), to identify at-risk family members. The uptake of cascade testing is typically meditated by the proband's willingness to disclose their resu...