Thyroid Cancer, Neuroendocrine Tumor, Adrenal Adenoma, and Other Tumors in a Patient With a Germline PMS1 Mutation

Article Oncology

Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center

Abhenil Mittal et al.

Summary: The study found a high frequency of P/LP mutations in Indian breast cancer patients, with significant contribution from non-BRCA genes. The current testing criteria need modifications to expand access to testing.

ANNALS OF SURGICAL ONCOLOGY (2022)

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Review Oncology

Mismatch repair deficiency: The what, how and why it is important

Maria C. Olave et al.

Summary: The mismatch repair system is crucial for maintaining genomic integrity, with deficiencies leading to hypermutability and microsatellite instability. Detection of these deficiencies is used for diagnostic, predictive, and prognostic purposes. Microsatellite instability can be evaluated through PCR or immunohistochemistry to assess mismatch repair function.

GENES CHROMOSOMES & CANCER (2022)

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Review Oncology

Multiple endocrine neoplasia type 2: A review

Jes Sloth Mathiesen et al.

Summary: Multiple endocrine neoplasias are rare hereditary syndromes with some having malignant potential. This review summarizes recent developments in the understanding of these syndromes and their impact on clinical management, including improved risk classification and genetic counseling. Future research directions are also highlighted to improve survival and morbidity in these patients.

SEMINARS IN CANCER BIOLOGY (2022)

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Article

Meningioma: not always a benign tumor. A review of advances in the treatment of meningiomas

Ilaria Maggio et al.

CNS oncology (2021)

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Article Endocrinology & Metabolism

Molecular Pathology of Well-Differentiated Gastro-entero-pancreatic Neuroendocrine Tumors

Sylvia L. Asa et al.

Summary: Well-differentiated neuroendocrine tumors commonly occur in the gastrointestinal and pancreaticobiliary system, with molecular studies pointing to genetic mutations and involvement of epigenetic regulators. Treatment approaches focus on the neuroendocrine nature of the tumors and targeting specific alterations.

ENDOCRINE PATHOLOGY (2021)

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Review Medicine, General & Internal

Discovering the Molecular Landscape of Meningioma: The Struggle to Find New Therapeutic Targets

Ilaria Maggio et al.

Summary: Meningiomas, the most common primary CNS tumors, exhibit a diverse genetic landscape with mutations like NF2 and other genetic alterations having prognostic value. Different subgroups of DNA methylation may correlate with prognosis, and exploring these genetic features may offer insights into potential therapeutic implications.

DIAGNOSTICS (2021)

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Review Oncology

Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC)

Chiara Diquigiovanni et al.

Summary: Non-medullary thyroid carcinoma (NMTC) originates from the follicular epithelial cells of the thyroid and familial cases (FNMTC) occur in pedigrees with two or more first-degree relatives affected, without other predisposing environmental factors. FNMTC cases exhibit high genetic heterogeneity, making it difficult to identify underlying molecular causes. Efforts using linkage-based approaches and next-generation sequencing have led to the identification of susceptibility genes associated with FNMTC predisposition. Integration of these new molecular findings with clinical data is crucial for early detection and tailored therapies to optimize patient management.

CANCERS (2021)

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Article

Colorectal Cancer Screening Recommendations and Outcomes in Lynch Syndrome

Christine Drogan et al.

Gastrointestinal Endoscopy Clinics of North America (2021)

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Article

Identification of Lynch Syndrome

Jennifer K. Maratt et al.

Gastrointestinal Endoscopy Clinics of North America (2021)

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Article

Lynch Syndrome-Associated Cancers Beyond Colorectal Cancer

Leah H. Biller et al.

Gastrointestinal Endoscopy Clinics of North America (2021)

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Review Endocrinology & Metabolism

Hereditary Endocrine Tumors and Associated Syndromes: A Narrative Review for Endocrinologists and Endocrine Surgeons

Edwina C. Moore et al.

Summary: The utility of genetic awareness in hereditary endocrine tumors lies in early treatment, screening for other manifestations, and family cascade testing initiation. This review highlights common hereditary syndromes associated with endocrine tumors, emphasizing screening and surveillance. Medical practitioners should be alert to the possibility of underlying hereditary syndromes, with interdisciplinary care being crucial for successful long-term management of patients and affected family members.

ENDOCRINE PRACTICE (2021)

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Review Biochemistry & Molecular Biology

POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes

Luigi Magrin et al.

Summary: POLE, POLD1, and NTHL1 genetic variants are associated with hereditary cancer predisposition, with different patterns of inheritance and potential impact on prognosis and treatment response in patients.

ONCOGENE (2021)

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Article Oncology