Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study [0.03%]
对不确定的STK11胚系变异重新分类为很可能致病的一项家系研究
Lorena Moreno,Miriam Cuatrecasas,Elia Grau et al.
Lorena Moreno et al.
Early-onset breast cancer in a woman prompted referral for genetic counseling, due to suspected hereditary cancer predisposition. After collecting a detailed personal and family medical history and providing comprehensive pre-test counselin...
Case Reports
Familial cancer. 2025 Oct 7;24(4):74. DOI:10.1007/s10689-025-00499-z 2025
Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study [0.03%]
墨西哥CHEK2 p.(Leu236Pro)变异患者的癌症谱系：一项回顾性研究
L Leonardo Flores-Lagunes,Rosa María Alvarez-Gómez,Carolina Molina-Garay et al.
L Leonardo Flores-Lagunes et al.
This study aimed to characterize, for the first time, the cancer spectrum associated with the most frequent pathogenic CHEK2 variant-NM_007194.4(CHEK2):c.707T > C p.(Leu236Pro)-in Mexican individuals. Although this variant is frequently det...
Addressing unmet needs in Lynch syndrome: a patient-centered meeting to foster education, emotional support, and shared decision-making [0.03%]
从患者角度出发推动教育、情感支持和共享决策以应对林奇综合征的未满足需求国际会议纪要
Marina Antelo,Lucía Stach,Francesc Balaguer
Marina Antelo
Navigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome [0.03%]
青少年或年轻成人携带Li-Fraumeni综合征患者在新恋爱关系中的披露应对
Camella J Rising,Chloe O Huelsnitz,Rowan Forbes Shepherd et al.
Camella J Rising et al.
Li-Fraumeni syndrome (LFS) is an early-onset cancer syndrome caused by pathogenic germline TP53 variants. Adolescents and young adults (AYAs) with LFS may have challenges navigating new romantic partnerships given the significant effects of...
Comparative insight: hereditary colorectal cancer registries in Iran, Singapore, and South Africa [0.03%]
遗传性结直肠癌登记处的比较研究：伊朗、新加坡和南非的案例
Ladan Goshayeshi,Ernest Wencong Eu,Raj Ramesar et al.
Ladan Goshayeshi et al.
This study compares three hereditary colorectal cancer (CRC) registries-the Iranian Hereditary Colorectal Cancer Registry (IHCCR), the Singapore Polyposis Registry (SPR), and the University of Cape Town Familial CRC Registry-to illuminate d...
Comparative Study
Familial cancer. 2025 Sep 5;24(4):70. DOI:10.1007/s10689-025-00494-4 2025
Response to letter of the editor 'Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions' [0.03%]
对编辑来信“使用磁共振胰腺癌高危人群筛查：优化扫描技术以发现小病变”的回复
Bas Boekestijn,Martin N Wasser
Bas Boekestijn
Surgical management of the colorectum in FAP: tailored approaches for optimal outcomes [0.03%]
家族性腺瘤性息肉病患者结直肠手术的个体化治疗策略
A Sinha,J G Karstensen,D Liska
A Sinha
Familial adenomatous polyposis (FAP) is an inherited condition that predisposes individuals to colorectal cancer without preventive treatment. Surgical management typically involves restorative proctocolectomy with an ileal pouch anal anast...
A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis [0.03%]
APC启动子1B的新插入/缺失突变与胃和结直肠多发性腺瘤相关
Frankie Fann,Marcy Richardson,Douglas Riegert-Johnson et al.
Frankie Fann et al.
Pathogenic variants in the APC gene are classically associated with autosomal dominant familial adenomatous polyposis (FAP), characterized by tens-to-thousands of colonic adenomatous polyps and a high-penetrance predisposition to colorectal...
Case Reports
Familial cancer. 2025 Sep 5;24(4):67. DOI:10.1007/s10689-025-00491-7 2025
Reliability and validity of the multidimensional impact of cancer risk assessment (MICRA) questionnaire: Japanese version [0.03%]
多维度癌症风险评估(MICRA)问卷的可靠性及有效性的日文版研究
Tomoko Watanabe,Kaori Kimura,Minako Kakimoto et al.
Tomoko Watanabe et al.
This study aimed to develop and validate a Multidimensional Impact of Cancer Risk Assessment questionnaire-Japanese version (MICRA-J) as an assessment of the psychosocial impact of genetic testing. The MICRA was translated into Japanese usi...