ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT).

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Purpose: To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non-/ genes.

Methods: Data were collected via in-person and paper/electronic surveys.

Risk factors, pathological and phenotypic features of male breast cancer in Greece.

Background: Breast cancer (BC) in males is a rare disease and comprises 0.5-1% of all BC cases. Due to its rarity, there are limited data regarding risk factors, biology and relevant treatment.

A collecting duct carcinoma producing carcinoembryonic antigen and Ca-125 in a 29-year-old woman.

Collecting duct carcinoma is a rare renal malignant neoplasm, arising from the medullary collecting duct and accounting for less than 1% of renal cell carcinomas. It is more common in middle-aged men and is usually presented with hematuria, abdominal mass and back or flank pain. Its immunohistochemical analysis detects the expression of various markers, such as low and high molecular weight keratins, Ulex europaeus agglutinin-1, epithelial membrane antigen and peanut lectin.

Neoplastic pericarditis as the initial manifestation of a papillary thyroid carcinoma.

Neoplastic pericarditis represents approximately 5%-7% of the cases with acute pericarditis and is rarely the initial manifestation of malignancy. The most common cause is lung cancer, followed by breast cancer, lymphomas, leukemia, and esophageal cancer. Neoplastic pericardial disease is extremely rare in thyroid cancer, especially as the first manifestation.

Coexistence of intracranial germ cell tumor and craniopharyngioma in an adolescent: case report and review of the literature.

Purpose: We present the case of a patient treated for intracranial germ cell tumor in which elements of craniopharyngioma were found in the residual tumor mass.

Findings: A 17 year old patient presented with a history of secondary amenorrhea. She deteriorated with headache and left eyelid drop, paresis of the abducent nerve and convergent strabismus (Parinaud syndrome).

Dermatomyositis as an early manifestation and a significant clinical precursor of lung cancer: report of a rare case and review of the current literature.

Dermatomyositis represents an idiopathic inflammatory connective-tissue disease, characterized by inflammation of the muscles and the skin. There is a high incidence of malignancy in patients with dermatomyositis. The main purpose of the present paper is to describe and underline the clinical significance of dermatomyositis manifestations as a precursor and early clinical signs of small cell lung cancer.

A case of paraneoplastic autoimmune pancreatitis: mini-review of paraneoplastic syndromes in breast cancer.

Breast cancer (BC), the most common type of cancer in women of the Western world, is often associated with paraneoplastic syndromes (PNS). Autoimmune pancreatitis is a recently recognized entity belonging to the spectrum of IgG4-related systemic diseases, which are characterized by target-organ plasmacytic infiltration and fibrosis. In this report we review PNS associated with BC and we present the first case of BC-associated autoimmune pancreatitis as well as its successful management with steroids and immunosuppressive BC-tailored chemotherapy.

Salvage chemotherapy with cisplatin and 5-fluorouracil in metastatic breast cancer. Particular activity against liver metastases.

Background: The prognosis of patients with metastatic breast cancer who have failed to respond to at least two different chemotherapy regimens is poor. Such patients with metastatic disease to the liver have even worse prognosis. Cisplatin and 5-fluorouracil (5-FU) can be given in patients with impaired hepatic function but their combination has not been extensively studied in this setting.

Insulin resistance: an independent risk factor for lung cancer?

Insulin resistance is closely associated with numerous metabolic disorders. Although studies have supported the importance of insulin resistance in carcinogenesis, the existing data have not established its relevance in the context of lung cancer. The aim of the present case-control study was to evaluate the association between insulin resistance and lung cancer after adjusting for possible confounders.

An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer.

Purpose: MUTYH-associated polyposis syndrome is inherited as a recessive trait and is characterized by the presence of colorectal adenomas and cancer predisposition. Carriers of biallelic mutations in the base excision repair gene MUTYH are exposed to an increased risk of colorectal cancer. The aim of this study was to investigate the pathogenicity of the 13-base-pair deletion, c.

Elevated serum leptin levels: a risk factor for non-small-cell lung cancer?

Objective: Leptin is intimately intertwined in the molecular pathophysiology of several cancer types; with regard to lung cancer, however, limited research has been conducted, with overall conflicting results.

Methods: The present case-control study comprises 66 non-small-cell lung cancer (NSCLC) cases and 132 healthy controls matched for gender and age. Lifestyle, sociodemographic and medical history information has been obtained in addition to body mass index (BMI) measurements and weight change during the last 2 months.

Pneumocystis carinii pneumonia in patients with solid tumors and lymphomas: predisposing factors and outcome.

Aim: The incidence of Pneumonocystis carinii pneumonia (PCP) is increasing in patients with cancer. The possible routes of transmission in this population, as well as the epidemiological data of PCP, are not very well understood. The collection and analysis of data concerning the predisposing factors for PCP will elucidate this subject.

Is weekly paclitaxel superior to paclitaxel given every 3 weeks? Results of a phase II trial.

Twenty-four patients previously treated with platinum containing regimens with stage IIIB-IV non-small-cell lung cancer (NSCLC) participated in the study. Sequential cohorts of patients were treated with 60 and 90 mg/m(2) of Paclitaxel per week. Paclitaxel was administered weekly over 1 h infusion for 6 consecutive weeks followed by 2 weeks without treatment (8-week cycle).