Ovarian small cell carcinoma in one of a pair of monozygous twins.

abstract：:Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell ...

journal_title：Familial cancer

authors： Linder C,Smith MJ,Bulman M,Wallace A,Freemont AJ,Mangham DC,Evans DGR

更新日期：2019-01-01 00:00:00

abstract：:This article provides a historical overview of the online database ( www.insight-group.org/mutations ) maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of...

journal_title：Familial cancer

authors： Plazzer JP,Sijmons RH,Woods MO,Peltomäki P,Thompson B,Den Dunnen JT,Macrae F

更新日期：2013-06-01 00:00:00

abstract：:A new BRCA1 locus product called BRCA1-IRIS has been identified recently. High-risk breast/ovarian families have not been screened for germ-line mutations at the specific BRCA1-IRIS coding sequence, as it was considered merely as part of BRCA1 intron 11. Here we report the first comprehensive screening of germ-line mu...

journal_title：Familial cancer

authors： de la Hoya M,Fernández JM,Sánchez de Abajo A,Tosar A,Díaz-Rubio E,Caldés T

更新日期：2005-01-01 00:00:00

abstract：:ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare disorder characterized by bilateral macronodular hyperplasia of the adrenal glands and increased cortisol production with subclinical or overt Cushing's syndrome. Although the family clustering of AIMAH is infrequent, we have tried our best to find su...

journal_title：Familial cancer

authors： Zhu J,Cui L,Wang W,Hang XY,Xu AX,Yang SX,Dou JT,Mu YM,Zhang X,Gao JP

更新日期：2013-12-01 00:00:00

abstract：:Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1 and BRCA2 in high risk brea...

journal_title：Familial cancer

authors： Hansen TV,Jønson L,Steffensen AY,Andersen MK,Kjaergaard S,Gerdes AM,Ejlertsen B,Nielsen FC

更新日期：2011-06-01 00:00:00

abstract：:Increased risk for urological tumors has been observed in mutation carriers with Lynch syndrome (LS). In this study, we evaluated the clinical features of uroepithelial (bladder and ureter) and kidney cancers in 974 Finnish mutation carriers. Altogether 30 patients had a total of 34 urological tumors: 12 ureter, 12 bl...

journal_title：Familial cancer

authors： Aarnio M,Säily M,Juhola M,Gylling A,Peltomäki P,Järvinen HJ,Mecklin JP

更新日期：2012-09-01 00:00:00

abstract：: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 rh...

journal_title：Familial cancer

authors： Witkowski L,Donini N,Byler-Dann R,Knost JA,Albrecht S,Berchuck A,McCluggage WG,Hasselblatt M,Foulkes WD

更新日期：2017-07-01 00:00:00

abstract：:Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variant...

journal_title：Familial cancer

authors： Lynch PM

更新日期：2008-01-01 00:00:00

abstract：:Assessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genet...

journal_title：Familial cancer

authors： Courtney E,Chin XW,Yuen J,Li ST,Chen Y,Allen JC Jr,Tan V,Lim GH,Ngeow J

更新日期：2018-10-01 00:00:00

abstract：:The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...

journal_title：Familial cancer

authors： Diwaker C,Sarathi V,Jaiswal SK,Shah R,Deshmukh A,Thomas AE,Prakash G,Malhotra G,Patil V,Lila A,Shah N,Bandgar T

更新日期：2021-01-04 00:00:00

abstract：:Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer"...

journal_title：Familial cancer

authors： Mayer M,Selig K,Tüttelmann F,Dinkel A,Gschwend JE,Herkommer K

更新日期：2019-04-01 00:00:00

abstract：:The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigeneti...

journal_title：Familial cancer

authors： Buecher B,De Pauw A,Bazire L,Houdayer C,Fievet A,Moncoutier V,Farkhondeh F,Melaabi S,Lyonnet DS,Golmard L

更新日期：2018-04-01 00:00:00

abstract：:Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence of APC, monoallelic MUTYH and biallelic MUTYH germline variants in Ashkenazi Jewish...

journal_title：Familial cancer

authors： Ukaegbu C,Levi Z,Fehlmann TD,Uno H,Chittenden A,Inra JA,Grover S,Kastrinos F,Syngal S,Yurgelun MB

更新日期：2020-08-03 00:00:00

abstract：:This study reports a randomized clinical trial evaluating the efficacy of an intervention to prepare individuals to communicate BRCA1/BRCA2 results to family members. Women aged 18 years and older, who had genetic testing, and who had adult first-degree relatives, were randomly assigned to a communication skills-build...

journal_title：Familial cancer

authors： Montgomery SV,Barsevick AM,Egleston BL,Bingler R,Ruth K,Miller SM,Malick J,Cescon TP,Daly MB

更新日期：2013-09-01 00:00:00

abstract：:Pheochromocytoma is a tumor that originates from the adrenal cortex and sympathetic chains. Most pheochromocytomas are sporadic, whereas others occur as hereditary syndromes. Familial pheochromocytoma has been frequently found in association with various mutations in genes of the succinate dehydrogenase family. A 21-y...

journal_title：Familial cancer

authors： Lee SA,Kim EH,Lee YM,Lee W,Min WK,Lee YJ,Huh JR,Lee WJ

更新日期：2010-12-01 00:00:00

abstract：:Founder mutations in BRCA1/2 genes have been detected in several Jewish communities in Israel, including in Ashkenazi Jews and Jews who immigrated to Israel from Iraq, Yemen, Iran and Afghanistan. We analyzed DNA samples of patients of Sephardic origin (descendents of Jews from the Iberian Peninsula) with breast cance...

journal_title：Familial cancer

authors： Sagi M,Eilat A,Ben Avi L,Goldberg Y,Bercovich D,Hamburger T,Peretz T,Lerer I

更新日期：2011-03-01 00:00:00

abstract：:Juvenile nasopharyngeal angiofibromas (JNAs) are rare tumors with prominent vascularity and locally destructive growth. The pathogenesis of JNA is largely unknown. A causal association between JNA and familial adenomatous polyposis has been suggested. Twenty-one patients diagnosed with juvenile angiofibroma filled out...

journal_title：Familial cancer

authors： Klockars T,Renkonen S,Leivo I,Hagström J,Mäkitie AA

更新日期：2010-09-01 00:00:00

abstract：:Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study has examined this among BRCA1/2 mutation carriers. The objectives of this study were to: (1) describe the ...

journal_title：Familial cancer

authors： Farrelly A,White V,Meiser B,Jefford M,Young MA,Ieropoli S,Winship I,Duffy J

更新日期：2013-09-01 00:00:00

abstract：:Individuals with a family history of colorectal cancer (CRC), have a two-to-five-fold increased lifetime risk to develop CRC. Thus, they are particularly likely to benefit from adherence to medical recommendations for CRC prevention. Despite this increased risk, previous studies have shown an underutilization of colon...

journal_title：Familial cancer

authors： Bronner K,Mesters I,Weiss-Meilnik A,Geva R,Rozner G,Strul H,Inbar M,Halpern Z,Kariv R

更新日期：2013-12-01 00:00:00

abstract：:Clinical practice guidelines discourage pediatric genetic testing for BRCA1/2 mutations due to a lack of timely medical benefit and psychosocial risk. Yet, some high risk families approach primary care providers (PCPs) about testing adolescents, and little is known about PCPs attitudes regarding these requests. We ass...

journal_title：Familial cancer

authors： O'Neill SC,Peshkin BN,Luta G,Abraham A,Walker LR,Tercyak KP

更新日期：2010-03-01 00:00:00

abstract：: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 genet...

journal_title：Familial cancer

authors： Levin T,Mæhle L

更新日期：2017-04-01 00:00:00

abstract：:The implementation of regular colonoscopy programs has significantly decreased the mortality associated with colorectal cancer (CRC) in Lynch syndrome patients. However, interval CRCs in Lynch syndrome that remain undetected by colonoscopy still represent a substantial problem in the management of the syndrome. One po...

journal_title：Familial cancer

authors： Ahadova A,von Knebel Doeberitz M,Bläker H,Kloor M

更新日期：2016-10-01 00:00:00

abstract：BACKGROUND:Three mutations in BRCA1 (185delAG 5382InsC) and BRCA2 (6174delT) can be detected in a substantial proportion of Jewish Ashkenazi breast/ovarian cancer families. Family-specific pathogenic mutations in both genes can be detected in up to 5% of high risk Ashkenazim. The contribution of major gene rearrangemen...

journal_title：Familial cancer

authors： Distelman-Menachem T,Shapira T,Laitman Y,Kaufman B,Barak F,Tavtigian S,Friedman E

更新日期：2009-01-01 00:00:00

abstract：:Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. The present study was conducted to evaluate whether the TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3'-UTR are associated with clear cell renal cell carcinoma (ccRCC). These two polymorphisms ...

journal_title：Familial cancer

authors： Pu Y,Chen P,Zhou B,Zhang P,Wang Y,Song Y,Zhang L

更新日期：2018-01-01 00:00:00

abstract：:Germline mutations in the BRCA1 tumor suppressor gene predispose affected individuals to breast cancer; however, incomplete cancer penetrance and the presence of phenocopies in BRCA1 families also indicate genetic and environmental modifiers of breast cancer risk. In this study, we have tested the single nucleotide po...

journal_title：Familial cancer

authors： Bielinska B,Gaj P,Kluska A,Nowakowska D,Balabas A,Dabrowska M,Niwinska A,Gruchota J,Zub R,Skasko E,Steffen J,Ostrowski J,Siedlecki JA

更新日期：2013-12-01 00:00:00

abstract：:Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice m...

journal_title：Familial cancer

authors： Menko FH,Ter Stege JA,van der Kolk LE,Jeanson KN,Schats W,Moha DA,Bleiker EMA

更新日期：2019-01-01 00:00:00

abstract：: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 ...

journal_title：Familial cancer

authors： Goehringer C,Sutter C,Kloor M,Gebert J,Slater EP,Keller M,Treiber I,Ganschow P,Kadmon M,Moog U

更新日期：2017-04-01 00:00:00

abstract：:Cancer genetic counseling sessions traditionally encompass collecting medical and family history information, evaluating that information for the likelihood of a genetic predisposition for a hereditary cancer syndrome, conveying that information to the patient, offering genetic testing when appropriate, obtaining cons...

journal_title：Familial cancer

authors： Cohen SA,McIlvried DE

更新日期：2011-06-01 00:00:00

abstract：: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 ...

journal_title：Familial cancer

authors： Villeneuve H,Tremblay S,Galiatsatos P,Hamel N,Guertin L,Morency R,Tischkowitz M

更新日期：2011-12-01 00:00:00

abstract：:Tylosis with esophageal cancer (TOC) is a rare familial cancer syndrome inherited in an autosomal-dominant manner and characterized by esophageal cancer susceptibility and hyperkeratotic skin lesions. Two heterozygous missense mutations in the RHBDF2 gene were recently reported to be associated with TOC in three famil...

journal_title：Familial cancer

authors： Saarinen S,Vahteristo P,Lehtonen R,Aittomäki K,Launonen V,Kiviluoto T,Aaltonen LA

更新日期：2012-09-01 00:00:00