Nuclear Pedigree Criteria for the Identification of Individuals Suspected to Be at Risk of an Inherited Predisposition to Gastric Cancer

Gastric cancer is the second most frequently diagnosed malignancy worldwide and therefore represents a significant healthcare burden. Environmental and genetic factors are involved in the development of gastric cancer. To date only one clear genetic predisposition has been identified involving mutations in the E-cadherin gene. The disease phenotype in patients harbouring E-cadherin mutations appears to be specifically related to diffuse gastric cancer. Little is known genetically about the other forms of gastric cancer. Since there is a growing awareness about the necessity of early intervention criteria have been developed that aid the identification of hereditary forms of gastric cancer. The aim of the current study was to identify minimal inclusion criteria so that nuclear pedigree families can be provided with risk assessment and/or genetic testing

CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland

Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome characterized by a high risk of diffuse stomach cancer and lobular breast cancer. HDGC is caused by germline mutations in the CDH1 gene encoding the E-cadherin which is a member of the transmembrane glycoprotein family responsible for calcium-dependent, cell-to-cell adhesion and plays a fundamental role in the maintenance of cell differentiation and the normal architecture of epithelial tissues. Mutations in the CDH1 gene are detected in 30–46% of families that fulfil strong clinical criteria for HDGC and in about 11% of families fulfilling the modified criteria. In the present study, we investigated germline mutations in the CDH1 gene in Polish patients with HDGC. The entire coding sequence of CDH1 gene was analyzed by sequencing in 86 Polish cancer patients from families fulfilling the modified criteria of HDGC. We found several silent mutations including one common variant (c.2076T>C) present in 56 patients, and three rare variants (c.2253C>T, c.1896C>T, c.2634C>T) detected in 2 patients. In addition, we found four rare sequence variants of unknown significance localized in introns. We did not detect any deleterious mutations of the CDH1 gene. CDH1 gene mutations are not present in Polish families with HDGC defined by the modified clinical criteria. Further studies of families with HDGC matching the restrictive criteria for HDGC are needed

The role of tomosynthesis and spectral mammography in the diagnostic of women with dense breast

Podstawowym badaniem przesiewowym we wczesnym rozpoznawaniu raka piersi jest klasyczna mammografia rentgenowska. Ze względu na jej ograniczenia obserwowany jest ciągły rozwój nowych technik obrazowania piersi. Cyfrowa tomosynteza piersi DBT (Digital Breast Tomosynthesis) i mammografia spektralna CESM (Contrast Enhanced Spectral Mammography) znajdują szczególne zastosowanie w diagnostyce kobiet o gęstym utkaniu gruczołów piersiowych. Metody te są obecnie wykonywane jako badania uzupełniające w diagnostyce, stagingu oraz odpowiedzi na leczenie chemioterapią. Celem artykułu jest omówienie, w oparciu o literaturę, cyfrowej tomosyntezy piersi oraz mammografii spektralnej ze szczególnym uwzględnieniem ich zastosowania w diagnostyce uzupełniającej piersi o gęstej strukturze.The primary screening test for early diagnosis of breast cancer is classic X-ray mammography. Due to its limitations, continuous development of new breast imaging techniques is observed. DBT (Digital Breast Tomosynthesis) and spectral mammography CESM (Contrast Enhanced Spectral Mammography) are used especially in the diagnosis of women with dense breast gland. At present these methods are available as complementary studies in diagnostics, staging and response to chemotherapy. The aim of the article is to discuss, based on literature, digital tomosynthesis and spectral mammography with particular emphasis on their use in complementary diagnostics of densely structured breasts