Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report.

Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.

Methods: We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types.

[Hereditary gastrointestinal cancer syndromes: the role of genetic counseling].

Mr. Editor, The National Comprehensive Cancer Network (NCCN) has determined that when a syndrome of predisposition to cancer is suspected, it is necessary to refer the patient for genetic evaluation because of the implications for diagnosis and management, as well as follow-up in the family (1). The genetic evaluation includes the description of the personal/family history and the request for the corresponding genetic study.

Correction to: Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú.

[This corrects the article DOI: 10.1186/s40842-019-0091-x.].

Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú.

Background: Prevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies.

Case Presentation: We present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss.

[Familial medullary thyroid carcinoma: case report and literature review.].

Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multiple Endocrine Neoplasia type 2 (MEN2); genetic conditions inherited with autosomal dominant pattern.

[Lynch syndrome: genetic, clinical and diagnostic aspects].

This review aims to present the genetic, clinical and diagnostic aspects of Lynch syndrome, as well as providing the most relevant information about genetic counseling in these patients and the current recommendations for their surveillance.

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence.

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.

Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH.

[Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature].

Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles.

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America.

Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome.

[Lynch syndrome, Muir Torre variant: 2 cases].

Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis.

[Demographic characteristics of human papillomavirus detected by PCR-RFLP in peruvian women].

In order to determine the sociodemographic characteristics of human papillomavirus (HPV) in patients referred to the National Institute of Neoplastic Diseases (INEN) between 2012-2014, the detection of HPV in cervical cells was performed by polymerase chain reaction (PCR). In 465 cervical samples, 151 (32.5%) cases were HPV positive.

[Inherited colorectal cancer predisposition syndromes identified in the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima, Peru;].

Background: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited síndromes that predispose to CRC.

Objective: To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN).

Material And Methods: A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013.

[Molecular subtypes of PML/RARα in patients with acute promyelocytic leukemia].

The objective was to describe the frequency of molecular subtypes of PML/RARα in patients with acute promyelocytic leukemia (APL) and their distribution according to risk of recurrence and cytomorphology. A case series was carried out, including fifty patients registered at the National Institute of Neoplastic Diseases (INEN) during 2010-2012, with molecular diagnosis of APL PML/RARα and bcr1, bcr2 and bcr3 subtypes by reverse-transcription polymerase chain reaction (RT-PCR). Bcr1 subtype was the most frequent (62%).