Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.

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：: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：INTRODUCTION:Prospective collection of epidemiological, psychosocial and outcome data in large breast cancer family cohorts should provide less biased data than retrospective studies regarding penetrance of breast cancer and modifiers of genetic risk. METHODS:The Kathleen Cuningham Foundation for Research into Breast ...

journal_title：Familial cancer

authors： Phillips KA,Butow PN,Stewart AE,Chang JH,Weideman PC,Price MA,McLachlan SA,Lindeman GJ,McKay MJ,Friedlander ML,Hopper JL,kConFab Investigators.

更新日期：2005-01-01 00:00:00

abstract：:Genetic testing for cancer susceptibility genes is increasingly being integrated into medical care. Test results help inform risks of the individual being tested as well as family members who could benefit from knowing the results. The responsibility for informing relatives of genetic test results falls on the proband...

journal_title：Familial cancer

authors： Daly MB,Montgomery S,Bingler R,Ruth K

更新日期：2016-10-01 00:00:00

abstract：:This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires assessing recall of screening advice, tests undertaken, risk perception, anxiety (Impact of Events Scale) and ...

journal_title：Familial cancer

authors： Antill YC,Reynolds J,Young MA,Kirk JA,Tucker KM,Bogtstra TL,Wong SS,Dudding TE,Di Iulio JL,Phillips KA

更新日期：2006-01-01 00:00:00

abstract：:Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In f...

journal_title：Familial cancer

authors： Qureshi N,Dutton B,Weng S,Sheehan C,Chorley W,Robertson JFR,Kendrick D,Kai J

更新日期：2020-06-11 00:00:00

abstract：:Lynch Syndrome is caused by mutations in DNA mismatch repair genes. Diagnosis is not always trivial and may be costly. Information regarding incidence, genotype-phenotype correlation, spectrum of mutations and genes involved in specific populations facilitate the diagnostic process and contribute to clinical work-up. ...

journal_title：Familial cancer

authors： Goldberg Y,Kedar I,Kariiv R,Halpern N,Plesser M,Hubert A,Kaduri L,Sagi M,Lerer I,Abeliovich D,Hamburger T,Nissan A,Goldshmidt H,Solar I,Geva R,Strul H,Rosner G,Baris H,Levi Z,Peretz T

更新日期：2014-03-01 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：:Possession of a BRCA1/2 mutation increases risk of contralateral breast and ovarian cancer recurrence and may have an impact on health management decisions, such as imaging screening, preventive surgical interventions and systemic therapies. A hospital-based study was conducted to assess the frequency and spectrum of ...

journal_title：Familial cancer

authors： Gaj P,Kluska A,Nowakowska D,Bałabas A,Piątkowska M,Dabrowska M,Niwińska A,Ostrowski J

更新日期：2012-12-01 00:00:00

abstract：:The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to...

journal_title：Familial cancer

authors： Kaur R,Meiser B,Yanes T,Young MA,Barlow-Stewart K,Roscioli T,Smith S,James PA

更新日期：2019-04-01 00:00:00

abstract：:One of a pair of monozygous twins was diagnosed and died of small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) at the age of 30 years. Her sister remained unaffected and was very concerned about her risk for developing SCCOHT. By performing comprehensive molecular analysis using whole exome sequencing (W...

journal_title：Familial cancer

authors： Fahiminiya S,Sabbaghian N,Albrecht S,Nadaf J,Callegaro-Filho D,Foulkes WD

更新日期：2019-04-01 00:00:00

abstract：:De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected...

journal_title：Familial cancer

authors： Schwab AL,Tuohy TM,Condie M,Neklason DW,Burt RW

更新日期：2008-01-01 00:00:00

abstract：:Currently, three prediction models are used to predict a patient's risk of having Lynch syndrome (LS). These models have been validated in probands with colorectal cancer (CRC), but not in probands presenting with endometrial cancer (EMC). Thus, the aim was to determine the performance of these prediction models in wo...

journal_title：Familial cancer

authors： Backes FJ,Hampel H,Backes KA,Vaccarello L,Lewandowski G,Bell JA,Reid GC,Copeland LJ,Fowler JM,Cohn DE

更新日期：2009-01-01 00:00:00

abstract：:This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 f...

journal_title：Familial cancer

authors： Jarry J,Brunet JS,Laframboise R,Drouin R,Latreille J,Richard C,Gekas J,Maranda B,Monczak Y,Wong N,Pouchet C,Zaor S,Kasprzak L,Palma L,Wu MK,Tischkowitz M,Foulkes WD,Chong G

更新日期：2011-12-01 00:00:00

abstract：:Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed ...

journal_title：Familial cancer

authors： Ten Broeke SW,Elsayed FA,Pagan L,Olderode-Berends MJW,Garcia EG,Gille HJP,van Hest LP,Letteboer TGW,van der Kolk LE,Mensenkamp AR,van Os TA,Spruijt L,Redeker BJW,Suerink M,Vos YJ,Wagner A,Wijnen JT,Steyerberg EW,Tops

更新日期：2018-10-01 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：:Desmoid tumors occur with high frequency in individuals with Familial Adenomatous Polyposis (FAP). Because of this, individuals developing desmoid tumors may be referred for genetic risk assessment. Determining whether a person has a FAP-related desmoid tumor or a sporadic desmoid can be challenging. We sought to char...

journal_title：Familial cancer

authors： Fallen T,Wilson M,Morlan B,Lindor NM

更新日期：2006-01-01 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：:The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these g...

journal_title：Familial cancer

authors： Win AK,Reece JC,Buchanan DD,Clendenning M,Young JP,Cleary SP,Kim H,Cotterchio M,Dowty JG,MacInnis RJ,Tucker KM,Winship IM,Macrae FA,Burnett T,Le Marchand L,Casey G,Haile RW,Newcomb PA,Thibodeau SN,Lindor NM,Hopper

更新日期：2015-12-01 00:00:00

abstract：:Hereditary medullary thyroid carcinoma (hereditary MTC) is a rare malignancy, accounting for 25-30% of all MTC. It occurs as part of multiple endocrine neoplasia type 2 (MEN 2). Autosomal dominant gain-of-function mutations in the RET proto-oncogene is the cause of the disease, in which the common mutations are codons...

journal_title：Familial cancer

authors： Zhou P,Liu J,Cheng SW,Wang B,Yang R,Peng L

更新日期：2012-06-01 00:00:00

abstract：:Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a ...

journal_title：Familial cancer

authors： Fujii K,Ohashi H,Suzuki M,Hatsuse H,Shiohama T,Uchikawa H,Miyashita T

更新日期：2013-12-01 00:00:00

abstract：BACKGROUND:Colorectal cancers resulting from defective DNA mismatch repair can occur in both hereditary non-polyposis colon cancer (HNPCC) and in the sporadic setting. They are characterised by a high level of microsatellite instability (MSI-H) and superficially resemble each other in that they are frequently located i...

journal_title：Familial cancer

authors： McGivern A,Wynter CV,Whitehall VL,Kambara T,Spring KJ,Walsh MD,Barker MA,Arnold S,Simms LA,Leggett BA,Young J,Jass JR

更新日期：2004-01-01 00:00:00

abstract：:Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reac...

journal_title：Familial cancer

authors： Shahmoradi S,Bidmeshkipour A,Salamian A,Emami MH,Kazemi Z,Salehi M

更新日期：2012-03-01 00:00:00

abstract：:We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister's colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect...

journal_title：Familial cancer

authors： Zighelboim I,Powell MA,Babb SA,Whelan AJ,Schmidt AP,Clendenning M,Senter L,Thibodeau SN,de la Chapelle A,Goodfellow PJ

更新日期：2009-01-01 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 initial enthusiasm generated by the discovery of the first susceptibility gene found for melanoma has slightly dampened over recent years. For the majority of melanoma families the underlying gene defect is still not known, so the search for other melanoma genes is continuing. Also, the increased risk of melanoma ...

journal_title：Familial cancer

authors： de Snoo FA,Bergman W,Gruis NA

更新日期：2003-01-01 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：: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 genet...

journal_title：Familial cancer

authors： Jarhelle E,Riise Stensland HM,Mæhle L,Van Ghelue M

更新日期：2017-01-01 00:00:00

abstract：:Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an ext...

journal_title：Familial cancer

authors： Obermair F,Rammer M,Burghofer J,Malli T,Schossig A,Wimmer K,Kranewitter W,Mayrbaeurl B,Duba HC,Webersinke G

更新日期：2019-04-01 00:00:00

abstract：:MicroRNAs are a new class of non-proteincoding, small RNAs that function as tumor suppressors or oncogenes. They participate in diverse biological pathways and function as gene regulators. A G>C polymorphism (rs2910164), which is located in the sequence of miR-146a precursor, results in a change from G:U to C:U in its...

journal_title：Familial cancer

authors： Guo H,Wang K,Xiong G,Hu H,Wang D,Xu X,Guan X,Yang K,Bai Y

更新日期：2010-12-01 00:00:00