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Locally Advanced Resectable Gastric Cancer
Published in Savio George Barreto, Shailesh V. Shrikhande, Dilemmas in Abdominal Surgery, 2020
Savio George Barreto, Shailesh V. Shrikhande
Gastric cancer is the fifth most commonly diagnosed cancer in the world and is ranked third among the leading causes of cancer-related deaths. The most important risk factors for gastric cancer include Helicobacter pylori and Epstein-Barr virus infections, smoking, alcohol, atrophic gastritis, and diets rich in smoked foods and foods containing nitrates and nitrosamines with a paucity of fresh fruits and vegetables. Hereditary cancer syndromes may also contribute to the development of the cancer in a proportion of patients. Over the last few decades, owing to the successful treatment of Helicobacter pylori in the west, the location of gastric cancers has migrated from distal stomach to the proximal gastroesophageal region. However, in the developing world, cancers are still seen originating all over the stomach. Given that symptoms in early gastric cancer are subtle resulting in patients presenting more often in an advanced, and often, incurable stage, it is important for clinicians and general practitioners seeing patients with new-onset dyspepsia, dyspepsia refractory to treatment, or upper gastrointestinal (GI) “sounding” symptoms to consider an early gastroscopy.
BRCA1-BRCA2 and ovarian cancer
Published in A. R. Genazzani, Hormone Replacement Therapy and Cancer, 2020
Variation in the phenotype, including the pattern of cancers, is common in many of the inherited cancer syndromes. Some of this variation between families might be attributed to the different effects of different mutations. In this respect, available data suggest that, when truncating BRCA1 mutations occur in the first two-thirds of the gene, the risk of ovarian relative to breast cancer in the family is significantly higher than when such mutations occur in the last third of the gene29. A similar genotype-phenotype correlation with respect to risks of breast and ovarian cancer is seen in BRCA2. BRCA2 mutations occurring in families with a high risk of ovarian cancer are clustered in a central portion of the gene which has been defined as the ‘ovarian cancer cluster region’30.
Rhabdoid Tumor Predisposition Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Hereditary cancer syndromes can present as congenital syndromes affecting people at the earliest stages of life and extending into the adult years. Many examples, such as Gardner syndrome and neurofibromatoses, have been extensively studied with a wealth of literature documenting their association with various clinical diseases. Subsequent uncovering of new genes and their roles in specific diseases has facilitated the establishment of new syndromes.
Utility of comet assay of DNA damage in the detection of malignant transformation of chronic liver cirrhosis
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Narmin Effat Saied, Gehad Mohsen Elmazny, Rania Mostafa El-helaly, Raghda El-sayed Farag, Khaled Abd El-Wahab, Ekbal Abo Hashim, Rasha Rizk El-zehery
These results are plausible given that the neoplastic condition itself is closely linked to the increase in DNA damage, and cancer patients possess more fragile DNA compared to controls. Furthermore, some cancer syndromes have an increased susceptibility to agents causing DNA-damage and a reduced capacity of the cells for DNA repair [22]. A recent meta-analysis of the implementation of comet technique in the evaluation of DNA damage and repair process in different cancers, not including HCC, revealed the capacity of comet assay as a sensitive indicator of complex molecular events such as DNA damage and repair, that are implicated in the progression to cancer development. The study also reported that comet assay may be considered an efficient tool for evaluating DNA damage and DNA repair capacity (DRC) as predictive and prognostic markers, since a higher grade of the tumor was associated with a significant increase in DNA damage. The study recommended further research into the application of the technique in the clinical field [23].
BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome
Published in Journal of Dermatological Treatment, 2022
Marcus Zaayman, Peter Nguyen, Annika Silfvast-Kaiser, Jillian Frieder, Cameron West, Katherine Tumminello, So Yeon Paek
Hereditary cancer syndromes are often inherited in an autosomal dominant manner, resulting in cancers occurring in early life. Many of these syndromes have harbingers in affected family members in the form of benign mucocutaneous lesions, such as hamartomas in Cowden syndrome, café-au-lait spots in neurofibromatosis type I, or hyperpigmented macules in Peutz-Jeghers syndrome (16). BIMTs can be a similar indicator in BAP1-TPDS. They are present in the majority of patients, and typically appear before the onset of other aggressive cancers. This can prompt genetic testing and screening in patients where a family cancer history may be unknown. No formal screening guidelines have been established for BAP1-TPDS, and the extent of germline BAP1 mutations in the general population is unknown. It is likely of most benefit to err on the side of caution with such patients until a better understanding of this tumor predisposition syndrome has been elucidated.
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis
Published in Expert Review of Molecular Diagnostics, 2022
Débora Leite Rocha, Patricia Ashton-Prolla, Clévia Rosset
Cancer predisposition syndromes (CPS) are mainly caused by germline pathogenic or likely pathogenic variants in cancer predisposition genes. Although the majority of CPS have autosomal dominant inheritance, autosomal recessive, X-linked, and Y-linked CPS have been described. In addition, differential phenotypes have been described for 16 CPGs associated with either monoallelic or biallelic germline pathogenic variants [5]. Each hereditary cancer syndrome has a specific tumor spectrum in addition to non-cancer clinical phenotypes. The non-cancer phenotypes are more common and can be very important in the clinical diagnosis of cancer syndromes, including skin, neurological, dysmorphic, and skeletal manifestations [5]. Criteria for the clinical diagnosis and also genetic testing have been established for most of the cancer predisposition syndromes. The most common cancer predisposition syndromes, their main phenotypes, inheritance, penetrance, and the associated genes are summarized in Table 1.