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Breast Surgery
Published in Tjun Tang, Elizabeth O'Riordan, Stewart Walsh, Cracking the Intercollegiate General Surgery FRCS Viva, 2020
Gaural Patel, Lucy Kate Satherley, Animesh JK Patel, Georgina SA Phillips
Hereditary diffuse gastric cancer Due to mutations in the CDH1 geneIncreased risk of gastric cancer and invasive lobular breast cancer
Hereditary Diffuse Gastric Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
The main hereditary cancer syndromes related to gastric cancer are hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), and familial intestinal gastric cancer (FIGC), which are all autosomal-dominant disorders with a Mendelian inheritance pattern, and which are implicated in up to 3% of all gastric cancers [1].
Rare Mendelian cancer syndromes and other cancers
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Caused by mutations in the CDH1 tumour suppressor gene, hereditary diffuse gastric cancer (HDGC) is another autosomal dominant cancer predisposition syndrome. As suggested by the name, the risk is for a specific pathological type of gastric cancer, which is described as ‘diffuse’ because of the characteristic infiltration of malignant cells beneath the stomach lining without the development of a discrete mass. (This used to be termed ‘leather-bottle stomach’ or linitis plastica.) This makes detection of the cancer particularly difficult, and prophylactic gastrectomy may be more appropriate than regular gastroscopic surveillance, although this surgery does carry a significant risk of morbidity and even mortality. In addition to the risk of gastric cancer, women with a CDH1 mutation have an increased risk of lobular breast cancer.
Becoming and being a parent with an inherited predisposition to diffuse gastric cancer: A qualitative study of young adults with a CDH1 pathogenic variant
Published in Journal of Psychosocial Oncology, 2023
Erin Tutty, Rowan Forbes Shepherd, Cass Hoskins, Rebecca Purvis, Mary Shanahan, Alex Boussioutas, Laura E. Forrest
Hereditary Diffuse Gastric Cancer (HDGC) is an inherited cancer predisposition syndrome caused by germline pathogenic variants (PVs) in the CDH1 gene. Individuals with a CDH1 PV have significantly increased (42% for males, 33% for females) lifetime risks of diffuse gastric cancer and may choose to manage their cancer risk by undergoing prophylactic total gastrectomy or participating in regular gastroscopic surveillance until malignant cells are detected and gastrectomy is recommended.1 Whilst total gastrectomy effectively eliminates one’s risk of diffuse gastric cancer, it is associated with myriad long-term health complications.2–6 Malnutrition, persistent weight loss, iron deficient anemia, osteoporosis, and “dumping” syndrome (i.e., when food moves to quickly through the stomach causing diarrhea, nausea, tiredness, or lightheadedness after a meal) from gastrectomy can negatively impact quality of life and mental health while individuals adjust to post-surgery eating patterns and bodily changes.2–6
Analysis of clinicopathologic characteristics of gastric cancer in patients ≤40 and ≥40 years of age
Published in Scandinavian Journal of Gastroenterology, 2020
Małgorzata Ławniczak, Alicja Gawin, Halina Jaroszewicz-Heigelmann, Wiesława Rogoza-Mateja, Andrzej Białek, Jan Kulig, Mariusz Kaczmarczyk, Teresa Starzyńska
In Poland, GC is the fourth leading cause of death in men and the sixth leading cause among women, regardless of age [3], pointing to the need for more research on GC in Poland. Gastric carcinogenesis is a complex problem, and some data confirm that CDH1 gene mutations add to diffuse GC susceptibility in young patients [16]. However, another group did not find the CDH1 gene mutation among Polish families meeting criteria for hereditary diffuse gastric cancer [17]. Similarly, the role of BRCA2 mutation in gastric carcinogenesis is not clear. Our previous data suggested that the C5972T variant of the BRCA2 gene tends to associate with increased GC risk [18].
Familial aggregation of gastric cancer with microsatellite instability**
Published in Acta Chirurgica Belgica, 2018
Karol Polom, Daniele Marrelli, Costantino Voglino, Giandomenico Roviello, Lorenzo De Franco, Carla Vindigni, Daniele Generali, Franco Roviello
Gastric cancer (GC) affects about one million people worldwide, and nowadays, it is the third cancer-related cause of death after lung and liver cancers [1]. The majority of gastric cancers are sporadic; however, about 10% seem to be of familial background. True hereditary GC occurs in about 1–3% of this type of neoplasm, and it is manifested with three main syndromes: hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) and familial intestinal gastric cancer (FIGC) [2]. HDGC is caused by germ line mutation of CDH1 gene and closely related genes [3,4].