Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer.

abstract：:African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process...

journal_title：Familial cancer

authors： Ding YC,Adamson AW,Steele L,Bailis AM,John EM,Tomlinson G,Neuhausen SL

更新日期：2018-04-01 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：:Familial adenomatous polyposis (FAP) provides a model for sporadic colorectal cancer development. Cyclooxygenase (COX) inhibition may ameliorate polyp development, but rofecoxib was withdrawn due to cardiovascular side effects. Although this selective COX-2 inhibitor, like diet, may alter the fatty acid and eicosanoid...

journal_title：Familial cancer

authors： Almendingen K,Larsen LN,Fausa O,Bratlie J,Høstmark AT,Aabakken L

更新日期：2010-12-01 00:00:00

abstract：:Founder mutations with a large impact in distinct populations have been described in Lynch syndrome. In Denmark, the MLH1 c.1667+2_1667_+8TAAATCAdelinsATTT mutation accounts for 25 % of the MLH1 mutant families. We used the national Danish hereditary nonpolyposis colorectal cancer register to estimate the cumulative l...

journal_title：Familial cancer

authors： Therkildsen C,Isinger-Ekstrand A,Ladelund S,Nissen A,Rambech E,Bernstein I,Nilbert M

更新日期：2012-12-01 00:00:00

abstract：:Family history of melanoma is a major melanoma risk factor. However, self-reported family histories for some cancers, including melanoma, are commonly inaccurate. We used a unique database, the Utah Population Database (UPDB), as well as the Utah Cancer Registry to determine the accuracy of self-reported family histor...

journal_title：Familial cancer

authors： Flint ND,Bishop MD,Smart TC,Strunck JL,Boucher KM,Grossman D,Secrest AM

更新日期：2020-05-21 00:00:00

abstract：:Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation...

journal_title：Familial cancer

authors： Chiu C,Loth S,Kuhlen M,Ginzel S,Schaper J,Rosenbaum T,Pietsch T,Borkhardt A,Hoell JI

更新日期：2019-07-01 00:00:00

abstract：:The identification of germline pathogenic/likely pathogenic (P/LP) variants in cancer predisposition genes can guide treatment and management decisions for the individual being tested and potentially at-risk relatives. Prior studies have raised concerns of racial/ethnic disparities in the detection rates of P/LP varia...

journal_title：Familial cancer

authors： Ndugga-Kabuye MK,Issaka RB

更新日期：2019-10-01 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：: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：:The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently 'Hereditary Nonpolyposis Colorectal Cancer' or HNPCC. Clarification of the genetic basis and full phenotypic expression of this ...

journal_title：Familial cancer

authors： Boland CR

更新日期：2005-01-01 00:00:00

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：:Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion...

journal_title：Familial cancer

authors： Robles-Díaz L,Goldfrank DJ,Kauff ND,Robson M,Offit K

更新日期：2004-01-01 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

abstract：:Germline CDH1 mutation carriers are at risk for early-onset diffuse gastric cancer (DGC) and female carriers have an additional risk of lobular breast cancer. The reported literature GC risk of 70% has led to the recommendation for germline mutation carriers to undergo prophylactic total gastrectomy (PTG). The objecti...

journal_title：Familial cancer

authors： Kaurah P,Talhouk A,MacMillan A,Lewis I,Chelcun-Schreiber K,Yoon SS,Huntsman D

更新日期：2019-10-01 00:00:00

abstract：:Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has...

journal_title：Familial cancer

authors： Gass J,Jackson J,Macklin S,Blackburn P,Hines S,Atwal PS

更新日期：2017-10-01 00:00:00

abstract：:In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic testing because of early-onset disease and/or a positive family history, typically undergo testing for molecular signs of Lynch syndrome in their tumors. In the absence of these signs, DNA testing for germline mutations asso...

journal_title：Familial cancer

authors： Knopperts AP,Nielsen M,Niessen RC,Tops CM,Jorritsma B,Varkevisser J,Wijnen J,Siezen CL,Heine-Bröring RC,van Kranen HJ,Vos YJ,Westers H,Kampman E,Sijmons RH,Hes FJ

更新日期：2013-03-01 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：:The Dutch Hereditary Cancer Registry was established in 1985 with the support of the Ministry of Health (VWS). The aims of the registry are: (1) to promote the identification of families with hereditary cancer, (2) to encourage the participation in surveillance programs of individuals at high risk, (3) to ensure the c...

journal_title：Familial cancer

authors： Vasen HF,Velthuizen ME,Kleibeuker JH,Menko FH,Nagengast FM,Cats A,van der Meulen-de Jong AE,Breuning MH,Roukema AJ,van Leeuwen-Cornelisse I,de Vos Tot Nederveen Cappel WH,Wijnen JT

更新日期：2016-07-01 00:00:00

abstract：:Women with a family history of breast cancer who are diagnosed with breast cancer are often counseled to undergo prophylactic mastectomy as part of their treatment for breast cancer. The majority of such individuals make these decisions in haste and without appropriate genetic counseling or testing. Most of them when ...

journal_title：Familial cancer

authors： Silva E

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：:Adult weight gain and central obesity can increase breast cancer risk. We determined the prevalence of adult weight gain and central obesity amongst women with a family history (FH) as compared to women with a population risk to determine whether adiposity could contribute to their increased risk. Adult weight gain, w...

journal_title：Familial cancer

authors： Harvie MN,Bokhari S,Shenton A,Ashcroft L,Evans G,Swindell R,Howell A

更新日期：2007-01-01 00:00:00

abstract：:The risks of cancers other than breast and ovarian amongst BRCA1 and BRCA2 mutation carriers are based on relatively few family based studies with the risk of specific cancers tested in population based samples of cancers from founder populations. We assessed risks of "other cancers" in 268 BRCA1 families and 222 BRCA...

journal_title：Familial cancer

authors： Moran A,O'Hara C,Khan S,Shack L,Woodward E,Maher ER,Lalloo F,Evans DG

更新日期：2012-06-01 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：: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：: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：:Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with a...

journal_title：Familial cancer

authors： Antelo M,Milito D,Rhees J,Roca E,Barugel M,Cuatrecasas M,Moreira L,Leoz ML,Carballal S,Ocaña T,Pellisé M,Castells A,Boland CR,Goel A,Balaguer F

更新日期：2015-09-01 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：: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：:Microsatellite instability (MSI) testing is useful for identifying patients with hereditary nonpolyposis colorectal cancer and detecting sporadic colorectal cancer that develops through replication error pathways. A pentaplex panel is recommended by the National Cancer Institute for MSI testing, but simplified mononuc...

journal_title：Familial cancer

authors： Oh JR,Kim DW,Lee HS,Lee HE,Lee SM,Jang JH,Kang SB,Ku JL,Jeong SY,Park JG

更新日期：2012-09-01 00:00:00

abstract：:Genetic services are receiving increasing numbers of referrals of people with a family history of cancer for assessment of genetic risk, and therefore need to find cost-effective ways of meeting this rising demand. General Practitioners (GPs) are known to be reluctant to take on genetic consultations. Current evidence...

journal_title：Familial cancer

authors： Gulzar Z,Goff S,Njindou A,Hearty H,Rafi I,Savage R,Matta G,Ferras J,Hodgson S

更新日期：2007-01-01 00:00:00