Search results for: Mev Dominguez Valentin

Items from 1 to 20 out of 23 results

article

Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome

Anne‐Sophie Werf‐'t Lam, Mar Rodriguez‐Girondo, Mandy Villasmil, Carli M. Tops, more

Genes, Chromosomes and Cancer > 63 > 5 > n/a - n/a

Background This study investigates the potential influence of genotype and parent‐of‐origin effects (POE) on the clinical manifestations of Lynch syndrome (LS) within families carrying (likely) disease‐causing MSH6 germline variants. Patients and Methods A cohort of 1615 MSH6 variant carriers (310 LS families) was analyzed. Participants were categorized based on RNA expression and parental inheritance...

article

Is HLA type a possible cancer risk modifier in Lynch syndrome?

Aysel Ahadova, Johannes Witt, Saskia Haupt, Richard Gallon, more

International Journal of Cancer > 152 > 10 > 2024 - 2031

Lynch syndrome (LS) is the most common inherited cancer syndrome. It is inherited via a monoallelic germline variant in one of the DNA mismatch repair (MMR) genes. LS carriers have a broad 30% to 80% risk of developing various malignancies, and more precise, individual risk estimations would be of high clinical value, allowing tailored cancer prevention and surveillance. Due to MMR deficiency, LS...

article

The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

Aysel Ahadova, Toni T. Seppälä, Christoph Engel, Richard Gallon, more

International Journal of Cancer > 148 > 4 > 800 - 811

Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent studies demonstrated that a substantial proportion of LS individuals develop CRC despite regular colonoscopy...

article

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Mev Dominguez‐Valentin, Julian R. Sampson, Pål Møller, Toni T. Seppälä, more

International Journal of Cancer > 148 > 2 > 512 - 513

article

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay Macrae, more

Hereditary Cancer in Clinical Practice > 2019 > 17 > 1 > 1-6

Background We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated. Methods The Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was...

article

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

Carlos Alberto Vaccaro, Francisco López‐Kostner, Della Valle Adriana, Edenir Inez Palmero, more

International Journal of Cancer > 145 > 2 > 318 - 326

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...

article

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Toni T. Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, more

Hereditary Cancer in Clinical Practice > 2019 > 17 > 1 > 1-8

Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently...

article

Mitochondrial mutations associated with hearing and balance disorders

Iman Ibrahim, Mev Dominguez-Valentin, Bernard Segal, Anthony Zeitouni, more

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis > 2018 > 810 > C > 39-44

Hearing and balance disorders are related to the inner ear and are among the major cause of falls in older adults. Hearing loss that commonly occurs with aging (aka presbyacusis) can result from noise exposure, smoking, ototoxic drugs and genetic factors such as mutations in nuclear and mitochondrial genes. Mutations in mitochondrial DNA (mtDNA) have been reported to play an important role in cell...

article

Evaluation of MLH1 variants of unclear significance

Nicole Köger, Lea Paulsen, Francisco López‐Kostner, Adriana Della Valle, more

Genes, Chromosomes and Cancer > 57 > 7 > 350 - 358

Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not. Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence...

article

Identification of genetic variants for clinical management of familial colorectal tumors

Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, more

BMC Medical Genetics > 2018 > 19 > 1 > 1-19

Background The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of genes other than MMR genes to the biological and clinical characteristics of Norwegian families fulfilling Amsterdam (AMS) criteria or revised Bethesda guidelines...

article

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, more

Hereditary Cancer in Clinical Practice > 2018 > 16 > 1 > 1-14

Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families’ path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to identify...

article

Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort

María Laura González, Natalia Causada-Calo, Juan Pablo Santino, Mev Dominguez-Valentin, more

Familial Cancer > 2018 > 17 > 3 > 395-402

Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas...

article

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

Benedito Mauro Rossi, Edenir Inêz Palmero, Francisco López-Kostner, Carlos Sarroca, more

BMC Cancer > 2017 > 17 > 1 > 1-26

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...

article

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families

Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, more

Familial Cancer > 2018 > 17 > 1 > 141-153

To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-like syndromes (BC, CSL and LFL, respectively). The Hereditary Cancer Biobank from the Norwegian Radium Hospital was used to identify early-onset BC, CSL...

article

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome

Mev Dominguez-Valentin, Patrick Joost, Christina Therkildsen, Mats Jonsson, more

BMC Urology > 2016 > 16 > 1 > 1-7

Background A possible role for prostate cancer in Lynch syndrome has been debated based on observations of mismatch-repair defective tumors and reports of an increased risk of prostate cancer in mutation carriers. Potential inclusion of prostate cancer in the Lynch syndrome tumor spectrum is relevant for family classification, risk estimates and surveillance recommendations in mutation carriers. ...

article

Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations

Patrick Joost, Christina Therkildsen, Mev Dominguez-Valentin, Mats Jönsson, more

Urology > 2015 > 86 > 6 > 1212-1217

To evaluate the risk of urothelial cancer in the upper urinary tract and the bladder, determine the contribution from the different mismatch-repair genes, and define clinical characteristics of urothelial cancer in Lynch syndrome.The national hereditary nonpolyposis colorectal cancer registry was used to identify all 288 Lynch syndrome families in Denmark. Urothelial cancers that developed in mutation...

article

Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

Jenny-Maria Jönsson, Katarina Bartuma, Mev Dominguez-Valentin, Katja Harbst, more

Familial Cancer > 2014 > 13 > 4 > 537-545

Ovarian cancer linked to Lynch syndrome represents a rare subset that typically presents at young age as early-stage tumors with an overrepresentation of endometrioid and clear cell histologies. We investigated the molecular profiles of Lynch syndrome-associated and sporadic ovarian cancer with the aim to identify key discriminators and central tumorigenic mechanisms in hereditary ovarian cancer....

article

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

Christina Therkildsen, Göran Jönsson, Mev Dominguez-Valentin, Anja Nissen, more

European Journal of Cancer > 2013 > 49 > 6 > 1226-1235

Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX...

article

Mutation spectrum in South American Lynch syndrome families

Mev Dominguez-Valentin, Mef Nilbert, Patrik Wernhoff, Francisco López-Köstner, more

Hereditary Cancer in Clinical Practice > 2013 > 11 > 1 > 1-9

Background Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system. Methods We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria...

article

Molecular insights on basal-like breast cancer

Mev Dominguez Valentin, Sabrina Daniela Silva, Maud Privat, Moulay Alaoui-Jamali, more

Breast Cancer Research and Treatment > 2012 > 134 > 1 > 21-30

Molecular classification of breast cancer (BC) identified diverse subgroups that encompass distinct biological behavior and clinical implications, in particular in relation to prognosis, spread, and incidence of recurrence. Basal-like breast cancers (BLBC) compose up to 15% of BC and are characterized by lack of estrogen receptor (ER), progesterone receptor (PR), and HER-2 amplification with expression...

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INFONA - science communication portal

Search results for: Mev Dominguez Valentin

Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome

Is HLA type a possible cancer risk modifier in Lynch syndrome?

The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

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

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Mitochondrial mutations associated with hearing and balance disorders

Evaluation of MLH1 variants of unclear significance

Identification of genetic variants for clinical management of familial colorectal tumors

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort

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

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome

Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations

Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

Mutation spectrum in South American Lynch syndrome families

Molecular insights on basal-like breast cancer

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