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Familial Cancer

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https://www.readbyqxmd.com/read/28063109/mutation-screening-of-ackr3-and-cops8-in-kidney-cancer-cases-from-the-confirm-study
#1
Maryam Mahmoodi, Tu Nguyen-Dumont, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship
An apparently balanced t(2;3)(q37.3;q13.2) translocation that appears to segregate with renal cell carcinoma (RCC) has indicated potential areas to search for the elusive genetic basis of clear cell RCC. We applied Hi-Plex targeted sequencing to analyse germline DNA from 479 individuals affected with clear cell RCC for this breakpoint translocation and genetic variants in neighbouring genes on chromosome 2, ACKR3 and COPS8. While only synonymous variants were found in COPS8, one of the missense variants in ACKR3:c...
January 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28039656/novel-and-reported-pathogenic-variants-in-exon-11-of-brca2-gene-in-a-cohort-of-sri-lankan-young-breast-cancer-patients
#2
Sumadee De Silva, Kamani Hemamala Tennekoon, Aravinda Dissanayake, Kanishka De Silva, Lakshika Jayasekara
Women with breast carcinoma diagnosed before 40 years of age with a strong familial risk have a greater prevalence of germline BRCA1 or BRCA2 variants than late onset breast cancer. Previously germline variants in BRCA1 and BRCA2 genes were characterized in a cohort of Sri Lankan breast cancer patients unselected for age of onset. This study focused on young breast cancer patients who were screened for previously identified hotspot regions in BRCA2 gene. A total of 48 young breast cancer patients with family history of cancer and 25 healthy controls were studied...
December 30, 2016: Familial Cancer
https://www.readbyqxmd.com/read/28004223/identification-of-msh2-inversion-of-exons-1-7-in-clinical-evaluation-of-families-with-suspected-lynch-syndrome
#3
Maureen E Mork, Andrea Rodriguez, Melissa W Taggart, Miguel A Rodriguez-Bigas, Patrick M Lynch, Sarah A Bannon, Y Nancy You, Eduardo Vilar
Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion...
December 21, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27988859/atm-mutations-for-surgeons
#4
Sara A Mansfield, Robert Pilarski, Doreen M Agnese
The ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase involved in DNA repair. Heterozygotic carriers are at an increased risk of developing breast cancer. As the use of genetic testing increases, identification of at-risk patients will also increase. The aim of this study is to review two cases of heterozygous ATM mutation carriers and review the literature to clarify the cancer risks and suggested management for breast surgeons who will be intimately involved in the care of these patients.
December 17, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27896549/embryonal-rhabdomyosarcoma-in-a-patient-with-a-heterozygous-frameshift-variant-in-the-dicer1-gene-and-additional-manifestations-of-the-dicer1-syndrome
#5
Julia Fremerey, Stefan Balzer, Triantafyllia Brozou, Joerg Schaper, Arndt Borkhardt, Michaela Kuhlen
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma. This study describes a novel, heterozygous frameshift DICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27896548/four-generations-of-sdhb-related-disease-complexities-in-management
#6
U Srirangalingam, M LeCain, N Tufton, S A Akker, W M Drake, K Metcalfe
SDHB mutations are linked to the familial paraganglioma syndrome type 4 (PGL4), which is associated with predominantly extra-adrenal disease and has high metastatic rates. Despite the lower penetrance rates in carriers of SDHB mutations compared to mutations in other paraganglioma susceptibility genes, the aggressive behavior of SDHB-linked disease warrants intensive surveillance to identify and resect tumors early. Patients with similar SDHB genotypes in whom the PGL syndrome manifests often exhibit very heterogeneous phenotypes...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27878467/outcomes-of-retesting-brca-negative-patients-using-multigene-panels
#7
Siddhartha Yadav, Ashley Reeves, Sarah Campian, Amy Paine, Dana Zakalik
The utility of multigene panels in retesting patients who previously tested negative for a pathogenic mutation by BRCA1/2 testing is not well established. Patients who previously tested negative for a pathogenic BRCA1/2 mutation by standard sequencing, and who were seen in cancer genetics center between November 1, 2012 and June 30, 2015 for additional testing utilizing multigene panels, were identified using our genetic testing registry. Data on demographics, personal and family history of cancer, results of panel testing and the impact on patient management was collected retrospectively...
November 22, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27873144/truncation-of-the-msh2-c-terminal-60-amino-acids-disrupts-effective-dna-mismatch-repair-and-is-causative-for-lynch-syndrome
#8
Eva Wielders, Elly Delzenne-Goette, Rob Dekker, Martin van der Valk, Hein Te Riele
Missense variants of DNA mismatch repair (MMR) genes pose a problem in clinical genetics as long as they cannot unambiguously be assigned as the cause of Lynch syndrome (LS). To study such variants of uncertain clinical significance, we have developed a functional assay based on direct measurement of MMR activity in mouse embryonic stem cells expressing mutant protein from the endogenous alleles. We have applied this protocol to a specific truncation mutant of MSH2 that removes 60 C-terminal amino acids and has been found in suspected LS families...
November 21, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27866340/the-hereditary-nature-of-small-cell-carcinoma-of-the-ovary-hypercalcemic-type-two-new-familial-cases
#9
Leora Witkowski, Nancy Donini, Rebecca Byler-Dann, James A Knost, Steffen Albrecht, Andrew Berchuck, W Glenn McCluggage, Martin Hasselblatt, William D Foulkes
Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rhabdoid tumours, which are usually caused by mutations in the related gene, SMARCB1. While familial tumours are rare, the incidence of germline mutations is relatively high, with up to 43% of SCCOHTs and 35% of rhabdoid tumours caused by germline mutations in SMARCA4 and SMARCB1, respectively...
November 19, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27866339/recurrent-tp53-missense-mutation-in-cancer-patients-of-arab-descent
#10
Aviad Zick, Luna Kadouri, Sherri Cohen, Michael Frohlinger, Tamar Hamburger, Naama Zvi, Morasha Plaser, Eilat Avital, Shani Breuier, Firase Elian, Azzam Salah, Yael Goldberg, Tamar Peretz
Hereditary cancer comprises more than 10% of all breast cancer cases. Identification of germinal mutations enables the initiation of a preventive program that can include early detection or preventive treatment and may also have a major impact on cancer therapy. Several recurrent mutations were identified in the BRCA1/2 genes in Jewish populations however, in other ethnic groups in Israel, no recurrent mutations were identified to date. Our group established panel sequencing in cancer patients to identify recurrent, founder, and new mutations in the heterogeneous and diverse populations in Israel, We evaluated five breast cancer patients of Arab descent diagnosed with cancer before the age of 50 years and identified the previously described TP53 mutation, c...
November 19, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27864651/all-in-the-family-analyzing-the-impact-of-family-history-in-addition-to-genotype-on-medullary-thyroid-carcinoma-aggressiveness-in-men2a-patients
#11
Kristin L Long, Carol Etzel, Thereasa Rich, Samuel Hyde, Nancy D Perrier, Paul H Graham, Jeffrey E Lee, Mimi I Hu, Gilbert J Cote, Robert Gagel, Elizabeth G Grubbs
Several guidelines for patients with multiple endocrine neoplasia 2A (MEN2A) take into account genotype and family history of medullary thyroid carcinoma (MTC) disease aggressiveness. We sought to determine if an association exists independent of genotype, which could provide important information for counseling MEN2A patients in management of their MTC. Pedigrees of patients with ≥5 family members with MEN2A were retrospectively reviewed. Analysis was performed among kindreds with the most frequently observed codon mutation (RET 634)...
November 18, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27848044/detection-of-false-positive-mutations-in-brca-gene-by-next-generation-sequencing
#12
Moushumi Suryavanshi, Dushyant Kumar, Manoj Kumar Panigrahi, Meenakshi Chowdhary, Anurag Mehta
BRCA1 and BRCA2 genes are implicated in 20-25% of hereditary breast and ovarian cancers. New age sequencing platforms have revolutionized massively parallel sequencing in clinical practice by providing cost effective, rapid, and sensitive sequencing. This study critically evaluates the false positives in multiplex panels and suggests the need for careful analysis. We employed multiplex PCR based BRCA1 and BRCA2 community Panel with ion torrent PGM machine for evaluation of these mutations. Out of all 41samples analyzed for BRCA1 and BRCA2 five were found with 950_951 insA(Asn319fs) at Chr13:32906565 position and one sample with 1032_1033 insA(Asn346fs) at Chr13:32906647, both being frame-shift mutations in BRCA2 gene...
November 15, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27844240/identification-of-a-rare-germline-nbn-gene-mutation-by-whole-exome-sequencing-in-a-lung-cancer-survivor-from-a-large-family-with-various-types-of-cancer
#13
Makia J Marafie, Mohammed Dashti, Fahd Al-Mulla
Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of malignancy. We have investigated an individual with lung cancer from an extended family segregating different types of hereditary cancer over several generations, including lung, breast, ovarian, colon, prostate and renal cancers...
November 14, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27838800/double-germline-mutations-in-apc-and-brca2-in-an-individual-with-a-pancreatic-tumor
#14
Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P Slater, Monika Keller, Irmgard Treiber, Petra Ganschow, Martina Kadmon, Ute Moog
We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the BRCA2 mutation only and another brother is supposed to have developed pancreatic cancer due to multiple non-genetic risk factors. We outline the impact of a double germline mutation in two tumor predisposition genes in one individual and proven heterogeneity of multiple cases of pancreatic tumors in one family...
November 12, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27832499/cancer-screening-behaviors-and-risk-perceptions-among-family-members-of-colorectal-cancer-patients-with-unexplained-mismatch-repair-deficiency
#15
Lior H Katz, Shailesh Advani, Allison M Burton-Chase, Bryan Fellman, Katrina M Polivka, Ying Yuan, Patrick M Lynch, Susan K Peterson
Communication gaps in families with unexplained mismatch repair (MMR) deficiency (UMMRD) could negatively impact the screening behaviors of relatives of individual with UMMRD. We evaluated cancer risk perception, screening behaviors, and family communication among relatives of colorectal cancer (CRC) patients with UMMRD. Fifty-one family members of 17 probands with UMMRD completed a questionnaire about cancer risk perception, adherence to Lynch syndrome (LS) screening recommendations, and communication with relatives...
November 10, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27832498/analysis-of-a-recql-splicing-mutation-c-1667_1667-3delagta-in-breast-cancer-patients-and-controls-from-central-europe
#16
Natalia Bogdanova, Katja Pfeifer, Peter Schürmann, Natalia Antonenkova, Wulf Siggelkow, Hans Christiansen, Peter Hillemanns, Tjoung-Won Park-Simon, Thilo Dörk
RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. The most common RECQL mutation, the 4 bp-deletion c.1667_1667+3delAGTA, was five-fold enriched in Polish breast cancer patients, but the exact magnitude of the risk is uncertain. We investigated two hospital-based breast cancer case-control series from Belarus and Germany, respectively, comprising a total of 2596 breast cancer patients and 2132 healthy females. The mutation was found in 9 cases and 6 controls, with an adjusted Odds Ratio 1...
November 10, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27830406/colonoscopy-in-lynch-syndrome-the-need-for-a-new-quality-score
#17
LETTER
Jurjen J Boonstra, Wouter H de Vos Tot Nederveen Cappel, Alexandra M J Langers, Hedwig van der Sluis, James H Hardwick, Hans F A Vasen
No abstract text is available yet for this article.
November 9, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27830405/dicer1-mutation-and-tumors-associated-with-a-familial-tumor-predisposition-syndrome-practical-considerations
#18
Eduardo J Bardón-Cancho, Ana Haro-Díaz, Francisco J Alonso-García-de la Rosa, Jorge Huerta-Aragonés, Marina García-Morín, Felipe González-Martínez, Carmen Garrido-Colino
The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families...
November 9, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#19
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-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27804060/uptake-of-genetic-counseling-genetic-testing-and-surveillance-in-hereditary-malignant-melanoma-cdkn2a-in-norway
#20
Trine Levin, Lovise Mæhle
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genetic services in probands and their relatives. We describe whether they attend genetic counseling when invited, whether they want a mutation test after being counseled and whether they adhere to recommendations for surveillance...
November 1, 2016: Familial Cancer
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