Colonoscopy findings in CDH1 carriers from a multicenter international study [0.03%]
CDH1基因突变携带者内镜检查的多中心国际研究结果分析
Arjun Chatterjee,Robert Hüneburg,Qijun Yang et al.
Arjun Chatterjee et al.
Germline (likely-)pathogenic variants (PV) in CDH1 predispose carriers to hereditary diffuse gastric cancer and lobular breast cancer. Previous studies from the United States suggest CDH1 variant carriers have an increased risk for adenomas...
Multicenter Study
Familial cancer. 2025 May 5;24(2):44. DOI:10.1007/s10689-025-00466-8 2025
Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data [0.03%]
BRCA1/2检测在上皮性卵巢癌患者中的应用评价：真实世界临床数据的启示
Lieke Lanjouw,Claire J H Kramer,Arja Ter Elst et al.
Lieke Lanjouw et al.
Identification of somatic and germline BRCA1/2 pathogenic variants in epithelial ovarian cancer (EOC) patients is essential for determining poly-(ADP-ribose)-polymerase (PARP) inhibitor sensitivity and genetic predisposition. In the Netherl...
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed? [0.03%]
Lynch 综合征基因变异的临床意义及处理流程专家共识（英语）
Morghan C Lucas,Thomas Keßler,Florentine Scharf et al.
Morghan C Lucas et al.
Interpreting variants of uncertain significance (VUS) in mismatch repair (MMR) genes remains a major challenge in managing Lynch syndrome and other hereditary cancer syndromes. This review outlines recommended VUS classification procedures,...
Emilio Canovai,Sarah Upponi,Irum Amin
Emilio Canovai
In patients with Familial Adenomatous Polyposis (FAP), large desmoid tumors can develop all over the body. However, the most frequent presentation is as large intra-abdominal masses, usually located in the mesentery of the small bowel. From...
The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey [0.03%]
Peutz-Jeghers综合征乳腺癌的临床病理特征：一项国际调查的结果
Elizabeth Loehrer,Anja Wagner,Massiah Bahar et al.
Elizabeth Loehrer et al.
Background: Female patients with Peutz-Jeghers syndrome (PJS) have an increased risk of breast cancer (BrCa), and surveillance is recommended. However, clinicopathological features of their tumors and prognosis are lackin...
Jihoon E Joo,Julen Viana-Errasti,Daniel D Buchanan et al.
Jihoon E Joo et al.
Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and,...
A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants [0.03%]
APC体细胞嵌合及两种特异性突变（I1307K和启动子变异）的研究进展综述
Shira Shur,Anna K Sommer,Andrew Latchford et al.
Shira Shur et al.
In the majority of patients with a classical Familial Adenomatous Polyposis (FAP) a pathogenic APC germline variant is identified; usually these are truncating variants in the coding region of APC. However, there are some special circumstan...
Vicky Cuthill,Andy Latchford,Sue Clark
Vicky Cuthill
The St Mark's Hospital Polyposis Registry was founded in 1924, the first such unit in the world. This paper documents the development of the unit over the subsequent 100 years, which was inextricably linked to scientific and clinical advanc...
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation [0.03%]
导致皮脂腺皮肤病变中错配修复缺陷的原因：MLH1蛋白表达缺失的遗传性与体细胞启动子甲基化间的差异
Jihoon E Joo,Khalid Mahmood,Mark Clendenning et al.
Jihoon E Joo et al.
Approximately 30% of sebaceous skin lesions (or sebaceous neoplasia) demonstrate DNA mismatch repair (MMR)-deficiency. MMR-deficiency can be caused by Lynch syndrome, resulting from germline pathogenic variants in the DNA MMR genes MLH1, MS...
Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease [0.03%]
家族性腺瘤性息肉病指南：如何界定罕见疾病的临床处理方法挑战重重
Benjamin Zare,Kevin J Monahan
Benjamin Zare
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, ...