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Familial Cancer

Tiziana Cavalli, Francesco Giudici, Gabriella Nesi, Andrea Amorosi, Raffaella Santi, Maria Luisa Brandi, Francesco Tonelli
Approximately 300 cases of sporadic parathyroid cyst (PCs) have been reported to date. Only two cases have been described in MEN1 so far. Detection by imaging could be challenging, especially in multiglandular primary hyperparathyroidism (HPT) and clinical outcome could be different. During the period 1990-2014, 71 MEN1 patients were operated for primary hyperparathyroidism in our centre. We report three cases of PCs in MEN1 patients affected by HPT, who underwent a total or subtotal parathyroidectomy with transcervical thymectomy...
October 20, 2016: Familial Cancer
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation...
October 8, 2016: Familial Cancer
Raissa Coelho Andrade, Anna Claudia Evangelista Dos Santos, Joaquim Caetano de Aguirre Neto, Julián Nevado, Pablo Lapunzina, Fernando Regla Vargas
Li-Fraumeni and Li-Fraumeni like syndromes (LFS/LFL) represent rare cancer-prone conditions associated mostly with sarcomas, breast cancer, brain tumors, and adrenocortical carcinomas. TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. The frequency of LFS/LFL families with no TP53 mutations detected suggests the involvement of other genes in the syndrome. In this study, we searched for mutations in TP53 in 39 probands from families with criteria for LFS/LFL...
October 6, 2016: Familial Cancer
Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebre-Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling
Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC susceptibility genes to 91 individuals of six phenotypic subgroups. Targeted NGS-based sequencing of the whole gene regions including introns of the 19 genes was used...
September 30, 2016: Familial Cancer
Yanni Chen, Michelle Peate, Rajneesh Kaur, Bettina Meiser, Tim Wong, Judy Kirk, Robyn L Ward, Annabel Goodwin, Finlay Macrae, Janet Hiller, Alison H Trainer, Gillian Mitchell
Recent research has shown that aspirin reduces the risk of cancers associated with Lynch Syndrome. However, uncertainty exists around the optimal dosage, treatment duration and whether the benefits of aspirin as a risk-reducing medication (RRM) outweigh adverse medication related side-effects. Little is known about clinicians' attitudes, current practice, and perceived barriers to recommending aspirin as a RRM. To explore the attitudes of clinicians who discuss risk management options with patients with Lynch Syndrome towards using aspirin as a RRM...
September 27, 2016: Familial Cancer
Yuichiro Watanabe, Hideyuki Ishida, Hiroyuki Baba, Takeo Iwama, Atsushi Kudo, Minoru Tanabe, Hideki Ishikawa
Duodenal cancer is a leading cause of death in patients with familial adenomatous polyposis (FAP). In patients with Spigelman's classification (SC) stage IV duodenal polyposis (DP), careful endoscopic surveillance by specialists or surgical intervention is mandatory. We herein report the surgical and pathological outcomes of FAP patients with SC stage duodenal polyposis undergoing pancreas-sparing total duodenectomy (PSTD), which has been rarely reported but seems optimal in such patients. PSTD and distal gastrectomy with Billroth-I type reconstruction in ten consecutive FAP patients with SC stage IV DP are reported...
September 21, 2016: Familial Cancer
Ingrid C A W Konings, Femme Harinck, Marianne A Kuenen, Grace N Sidharta, Jacobien M Kieffer, Cora M Aalfs, Jan-Werner Poley, Ellen M A Smets, Anja Wagner, Anja van Rens, Frank P Vleggaar, Margreet G E M Ausems, Paul Fockens, Jeanin E van Hooft, Marco J Bruno, Eveline M A Bleiker
It is important to adequately and timely identify individuals with cancer worries amongst participants in a pancreatic ductal adenocarcinoma (PDAC) surveillance program, because they could benefit from psychosocial support to decrease distress. Therefore, the aim of this study was to assess both psychosocial and clinical factors associated with cancer worries. High-risk individuals participating in PDAC-surveillance were invited to annually complete a cancer worry scale (CWS) questionnaire which was sent after counseling by the clinical geneticist (T0), after intake for participation in PDAC-surveillance (T1), and then annually after every MRI and endoscopic ultrasonography (EUS) (T2 and further)...
September 14, 2016: Familial Cancer
Patrick R Benusiglio, Marina Di Maria, Leila Dorling, Anne Jouinot, Antoine Poli, Sophie Villebasse, Marine Le Mentec, Béatrice Claret, Diane Boinon, Olivier Caron
The increase in referrals to cancer genetics clinics, partially associated with the "Angelina Jolie effect", presents a challenge to existing services, many are already running at full capacity. More efficient ways to deliver genetic counselling are therefore urgently needed. We now systematically offer group instead of standard individual counselling to patients with suspected Hereditary Breast and Ovarian Cancer. Group sessions last 30 min. The first twenty consist of a presentation by the genetic counsellor, the next ten of a discussion involving a cancer geneticist and a psychologist...
September 13, 2016: Familial Cancer
Walid Sabri Hamadou, Sawsen Besbes, Violaine Bourdon, Yosra Ben Youssef, Mohamed Adnène Laatiri, Testsuro Noguchi, Abderrahim Khélif, Hagay Sobol, Zohra Soua
Mutations are responsible for familial cancer syndromes which account for approximately 5-10 % of all types of cancers. Familial cancers are often caused by genetic alterations occurring either in tumor suppressor or genomic stability genes such as TP53. In this study, we have analyzed the TP53 gene by direct sequencing approach, in a panel of 18 Tunisian familial hematological malignancies cases including several forms of leukemia, lymphoma and myeloid syndrome and 22 cases of sporadic acute leukemia. In one familial case diagnosed with acute lymphoblastic leukemia, we reported an intronic substitution 559+1 G>A which may disrupt the splice site and impact the normal protein function...
September 12, 2016: Familial Cancer
Afaf Elsaid, Rami Elshazli, Fatma El-Tarapely, Hossam Darwish, Camelia Abdel-Malak
Colorectal cancer (CRC) is a heterogeneous triat that involves both environmental and genetic factors. Genetic mutations of MUTYH (p.Y179C and p.G396D) have been reported to be associated with increased risk of CRC among several ethnic populations. The aim of this work is to assess the association of the monoallelic MUTYH mutations (p.Y179C and p.G396D) with increased risk of CRC among Egyptian patients. This study included 120 unrelated CRC Egyptian patients who were compared with 100 healthy controls from the same locality...
September 8, 2016: Familial Cancer
Joanne Kotsopoulos, Victoria Sopik, Barry Rosen, Isabel Fan, John R McLaughlin, Harvey Risch, Ping Sun, Steven A Narod, Mohammad R Akbari
Recent studies suggest that mutations in the partner and localizer of BRCA2 (PALB2) gene may predispose to ovarian cancer. It is of importance to clarify the prevalence and penetrance of PALB2 mutations in an unselected population so that clinical recommendations for prevention can be implemented. We evaluated the prevalence of germline mutations in PALB2 among 1421 epithelial ovarian cancer patients and 4300 European controls from the National Heart, Lung, and Blood Institute's Exome Sequencing Project dataset...
September 8, 2016: Familial Cancer
Danielle S Chun, Brygida Berse, Vickie L Venne, Scott L DuVall, Kelly K Filipski, Michael J Kelley, Laurence J Meyer, Michael S Icardi, Julie A Lynch
Guideline-concordant cancer care is a priority within the Department of Veterans Affairs (VA). In 2009, the VA expanded its capacity to treat breast cancer patients within VA medical centers (VAMCs). We sought to determine whether male and female Veterans diagnosed with breast cancer received BRCA testing as recommended by the National Comprehensive Cancer Network (NCCN) guidelines on Genetic/Familial High-Risk Assessment in Breast and Ovarian Cancer (v. 1.2010-1.2012). Using the 2011-2012 VA Central Cancer Registry and BRCA test orders from Myriad Genetics, we conducted a retrospective study...
September 2, 2016: Familial Cancer
Verónica Cabreira, Carla Pinto, Manuela Pinheiro, Paula Lopes, Ana Peixoto, Catarina Santos, Isabel Veiga, Patrícia Rocha, Pedro Pinto, Rui Henrique, Manuel R Teixeira
Lynch syndrome (LS) accounts for up to 4 % of all colorectal cancers (CRC). Detection of a pathogenic germline mutation in one of the mismatch repair genes is the definitive criterion for LS diagnosis, but it is time-consuming and expensive. Immunohistochemistry is the most sensitive prescreening test and its predictive value is very high for loss of expression of MSH2, MSH6, and (isolated) PMS2, but not for MLH1. We evaluated if LS predictive models have a role to improve the molecular testing algorithm in this specific setting by studying 38 individuals referred for molecular testing and who were subsequently shown to have loss of MLH1 immunoexpression in their tumors...
August 31, 2016: Familial Cancer
Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P Kratz
In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in 'ultramutated' sporadic cancers. This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations. The patient had multiple café-au-lait macules and a pilomatricoma mimicking the clinical phenotype of constitutional mismatch repair deficiency...
August 29, 2016: Familial Cancer
Karin Eijkelenkamp, Thamara E Osinga, Mirjam M de Jong, Wim J Sluiter, Robin P F Dullaart, Thera P Links, Michiel N Kerstens, Anouk N A van der Horst-Schrivers
Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head-and-neck-paraganglioma (HNPGL), sympathetic PGL, pheochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson's two-hit hypothesis. To assess the penetrance and optimal surveillance for different manifestations of SDHB mutation carriers. This study included all SDHB mutation carriers who were followed at the Department of Endocrinology at the University Medical Center of Groningen...
August 29, 2016: Familial Cancer
Carolina Arenas Valencia, Martha Lucia Rodríguez López, Andrea Yimena Cardona Barreto, Edgar Garavito Rodríguez, Clara Eugenia Arteaga Díaz
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC) is a rare disease and since the first report, it has been found in just over 200 families approximately, around the world (Smit et al. in Clin Genet 79:49-59, 2009). Patients in Colombia or in Latin America have not been described, as far as we know. HLRCC is inherited in an autosomal dominant manner, and it is caused by heterozygous germline mutations in the FH gene, which encodes the fumarate hydratase enzyme. It is characterized mainly by the appearance of cutaneous and uterine leiomyomas, and an early-onset, aggressive form of type 2- papillary renal cell carcinoma (Smit et al...
August 26, 2016: Familial Cancer
Chise Kato, Kentaro Fujii, Yuto Arai, Hiromi Hatsuse, Kazuaki Nagao, Yoshinaga Takayama, Kouzou Kameyama, Katsunori Fujii, Toshiyuki Miyashita
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. To date, we have detected 73 mutations in PTCH1 and ten of them (14 %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor site. Five mutations were localized within the invariant GT-AG splice site, whereas the other five mutations occurred outside the invariant GT-AG site including the last exonic nucleotide...
August 25, 2016: Familial Cancer
Geneviève Larouche, Jocelyne Chiquette, Sylvie Pelletier, Jacques Simard, Michel Dorval
Little is known about the change in mammograms use by women after BRCA1/2 genetic testing. We compared the rate of bilateral mammograms after and prior to BRCA1/2 testing, according to test result. Information from the Quebec Health Insurance Board database was used to identify all registered mammograms delivered between May 1, 1998 and March 31, 2012 to a cohort of 396 unaffected French Canadian women tested for BRCA1/2 mutations. Mammograms incidence density ratios were calculated using the Cox proportional hazards model for repeated events...
August 23, 2016: Familial Cancer
Elisabeth Jarhelle, Hilde Monica Frostad Riise Stensland, Lovise Mæhle, Marijke Van Ghelue
Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genetic counseling process regarding clinical management of the patient and the family. We investigated 32 variants previously detected in 33 samples from patients with a family history of breast or ovarian cancer...
August 5, 2016: Familial Cancer
Nicole Cousens, Rajneesh Kaur, Bettina Meiser, Lesley Andrews
About 2.5 % of the Ashkenazi-Jewish population carry one of three "founder" mutations in BRCA1 and BRCA2 (BRCA1/2). Currently, testing is offered to Jewish people with a personal and/or family history of breast and/or ovarian cancer; however less than half of BRCA1/2 carriers within the Jewish population are aware of their family history. Population-based testing in other countries has shown to greatly increase the number of mutation carriers identified, compared to targeted testing of people with a family history...
August 1, 2016: Familial Cancer
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