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Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
Springer Science and Business Media LLC - Tập 19 - Trang 211-213 - 2020
A. Laner, A. Benet-Pages, B. Neitzel, E. Holinski-Feder
In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathogenic variant. A total of 3297 individuals with suspicion of hereditary breast and...... hiện toàn bộ
Gynecologic Cancers in Lynch Syndrome/HNPCC
Springer Science and Business Media LLC - Tập 4 - Trang 249-254 - 2005
H. Karen Lu, Russell R. Broaddus
Recent studies have estimated that the lifetime risk of endometrial cancer in women with Lynch syndrome/hereditary non-polyposis colorectal cancer syndrome (Lynch/HNPCC) is 40–60%. This risk equals or exceeds their risk for colon cancer. While much research has been done to define the natural history and molecular features of Lynch/HNPCC associated colon cancer, there has been considerably less re...... hiện toàn bộ
Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome
Springer Science and Business Media LLC - - 2013
Marry H. Nieuwenhuis, C. Marleen Kets, Maureen Murphy-Ryan, Helger G. Yntema, D. Gareth Evans, Chrystelle Colas, Pal Møller, Frederik J. Hes, Shirley V. Hodgson, Maran J. W. Olderode-Berends, Stefan Aretz, Karl Heinimann, Encarna B. Gómez García, Fiona Douglas, Allan Spigelman, Susanne Timshel, Noralane M. Lindor, Hans F. A. Vasen
Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype–phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed. Data on patients with PTEN mutations were collected from...... hiện toàn bộ
Attenuated familial adenomatous polyposis (AFAP): a review of the literature
Springer Science and Business Media LLC - - 2003
Anne Lyster Knudsen, Marie Luise Bisgaard, Steffen Bülow
Over the last decade, a subset of familial adenomatous polyposis(FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity – the reports on AFAP are largely casuistic or only deal with a few kindreds – and the diagnostic criteria and methods of investigation differ markedly. The true incide...... hiện toàn bộ
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
Springer Science and Business Media LLC - Tập 14 - Trang 505-513 - 2015
Inmaculada de Juan, Sarai Palanca, Asunción Domenech, Lidia Feliubadaló, Ángel Segura, Ana Osorio, Isabel Chirivella, Miguel de la Hoya, Ana Beatriz Sánchez, Mar Infante, Isabel Tena, Orland Díez, Zaida Garcia-Casado, Ana Vega, Àlex Teulé, Alicia Barroso, Pedro Pérez, Mercedes Durán, Estela Carrasco, Mª José Juan-Fita, Rosa Murria, Marta Llop, Eva Barragan, Ángel Izquierdo, Javier Benítez, Trinidad Caldés, Dolores Salas, Pascual Bolufer
Male breast cancer (MBC) is a rare disease that represents <1 % of all breast cancers (BCs). We analyze the results of a multicenter study performed in Spanish familial MBC including family history of hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (M...... hiện toàn bộ
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman
Springer Science and Business Media LLC - - 2021
Elise Pierre-Noël, Fabrice Airaud, Estelle Cauchin, Céline Garrec, Ingrid Ricordeau, Clémence Michon, Olivier Kerdraon, Stéphane Bezieau, Caroline Abadie
Lynch syndrome (LS) is a condition which predisposes individuals primarily to early-onset colorectal and endometrial cancer. LS is characterized by a germline pathogenic variant in one of the MMR (MisMatch Repair) gene, inducing a phenotype of microsatellite instability in the tumor, which may be associated with a loss of expression of MMR proteins detected by standard immunohistochemistry on tumo...... hiện toàn bộ
Cancer survivors: familial risk perception and management advice given to their relatives
Springer Science and Business Media LLC - - 2010
Francois Eisinger, Anne Deborah Bouhnik, Laetitia Malavolti, Anne Gaelle Le Corroller-Soriano, Claire Julian-Reynier
The aim of this study was to describe 2 years cancer survivors’ perception of the cancer risk running in their family, and to describe how frequently these survivors recommended cancer screening to their relatives. A national cross-sectional survey was launched by the French Ministry of Health to investigate the living conditions of adult cancer patients 2 years after cancer diagnosis. Among the 1...... hiện toàn bộ
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Springer Science and Business Media LLC - Tập 16 - Trang 271-277 - 2016
Charlotte J. Dommering, Lidewij Henneman, Annemarie H. van der Hout, Marianne A. Jonker, Carli M. J. Tops, Ans M. W. van den Ouweland, Rob B. van der Luijt, Arjen R. Mensenkamp, Frans B. L. Hogervorst, Egbert J. W. Redeker, Christine E. M. de Die-Smulders, Annette C. Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel–Lindau disease (VHL), Li–Fraumen...... hiện toàn bộ
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation
Springer Science and Business Media LLC - Tập 14 - Trang 373-382 - 2015
Ashley Farrelly, Victoria White, Mary-Anne Young, Michael Jefford, Sandra Ieropoli, Jessica Duffy, Ingrid Winship, Bettina Meiser
Women with a BRCA1/2 gene mutation face complex risk management decisions and communication issues that can lead to increased levels of distress and unmet needs. We describe the implementation of a peer-support program that aims to reduce distress among women with a BRCA1/2 mutation, including peer and support recipient satisfaction with the program, challenges and lessons learnt. Participants wit...... hiện toàn bộ
Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
Springer Science and Business Media LLC - Tập 10 - Trang 691-694 - 2011
Hugo Villeneuve, Steve Tremblay, Polymnia Galiatsatos, Nancy Hamel, Louis Guertin, Renald Morency, Marc Tischkowitz
Cowden syndrome (CS) is a cancer predisposition syndrome caused by germline mutations in the PTEN tumor suppressor gene. It is associated with an increased risk of thyroid, breast and endometrial cancer but many manifestations can be found in the head and neck region, some of which are pathognomonic. Here we report a 35-year-old male referred by his dentist for evaluation of a lesion located near ...... hiện toàn bộ
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