p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

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：:To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A qu...

journal_title：Familial cancer

authors： Reumkens K,de Die-Smulders CEM,van Osch LADM

更新日期：2019-04-01 00:00:00

abstract：:Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited cancer predisposition syndrome characterized by a combination of tumors including sarcoma, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Germline mutations in the tumor suppressor gene TP53 are associated with LFS. We present a famil...

journal_title：Familial cancer

authors： van Hest LP,Ruijs MW,Wagner A,van der Meer CA,Verhoef S,van't Veer LJ,Meijers-Heijboer H

更新日期：2007-01-01 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：:To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records of 96 probands with CRC diagnosed prior to age 36 from three...

journal_title：Familial cancer

authors： Jasperson KW,Vu TM,Schwab AL,Neklason DW,Rodriguez-Bigas MA,Burt RW,Weitzel JN

更新日期：2010-06-01 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：:Identifying a BRCA mutation among families with hereditary breast and ovarian cancer enables distinguishing those who may benefit from a specific medical management. This study aimed to evaluate the uptake of predictive testing among close relatives of a proband in Spanish families with a BRCA1 or BRCA2 mutation, and ...

journal_title：Familial cancer

authors： Sanz J,Ramón y Cajal T,Torres A,Darder E,Gadea N,Velasco A,Fortuny D,López C,Fisas D,Brunet J,Alonso MC,Balmaña J

更新日期：2010-09-01 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：:In rare cases the diagnosis of Familial Adenomatous Polyposis (FAP) may not be simple or straightforward. We describe the case of a 54-year man in whom endoscopic and histological features of FAP led to proctocolectomy with ileoanal anastomosis. At anatomical examination, air-filled cystic formations in the submucosa ...

journal_title：Familial cancer

authors： Ponz de Leon M,Bertarelli C,Casadei GP,Grilli A,Bacchini P,Pedroni M,Jovine E

更新日期：2013-09-01 00:00:00

abstract：:In the inherited syndromes, MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colorectal cancer (HNPCC), somatic mutations occur due to loss of the caretaker function that base-repair (BER) and mismatch repair (MMR) genes have, respectively. Recently, we identified a large branch from a MSH6 HNPCC family in...

journal_title：Familial cancer

authors： van Puijenbroek M,Nielsen M,Reinards TH,Weiss MM,Wagner A,Hendriks YM,Vasen HF,Tops CM,Wijnen J,van Wezel T,Hes FJ,Morreau H

更新日期：2007-01-01 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：: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：:Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows ...

journal_title：Familial cancer

authors： West AH,Blazer KR,Stoll J,Jones M,Weipert CM,Nielsen SM,Kupfer SS,Weitzel JN,Olopade OI

更新日期：2018-10-01 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：:First-degree relatives of women with breast cancer may experience increased worry or perceived risk when faced with reminders of their own cancer risk. Worry and risk reminders may include physical symptoms (e.g., persistent breast pain) and caregiving experiences. Women who engage in pain catastrophizing may be parti...

journal_title：Familial cancer

authors： Whitney CA,Dorfman CS,Shelby RA,Keefe FJ,Gandhi V,Somers TJ

更新日期：2019-01-01 00:00:00

abstract：OBJECTIVE:To determine the value of histology in identifying Lynch syndrome among those patients with early onset of colorectal cancer (CRC). METHODS:Demographic, clinical and cancer history data from patients diagnosed with CRC before 60 years of age, and treated at our institution between 1997 and 2005, were collect...

journal_title：Familial cancer

authors： Truta B,Chen YY,Blanco AM,Deng G,Conrad PG,Kim YH,Park ET,Kakar S,Kim YS,Velayos F,Sleisenger MH,Terdiman JP

更新日期：2008-01-01 00:00:00

abstract：:To evaluate perceived pain during repetitive annual endometrial sampling at gynaecologic surveillance in asymptomatic women with Lynch syndrome (LS) over time and in addition to symptomatic women without LS, undergoing single endometrial sampling. In this prospective study, 52 women with LS or first degree relatives w...

journal_title：Familial cancer

authors： Helder-Woolderink J,de Bock G,Hollema H,van Oven M,Mourits M

更新日期：2017-04-01 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：:Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare autosomal recessive predisposition to colorectal polyposis and other malignancies, often childhood-onset, that is caused by biallelic inheritance of mutations in the same mismatch repair gene. Here, we describe a patient with a clinical diagnosis of ...

journal_title：Familial cancer

authors： Mork ME,Borras E,Taggart MW,Cuddy A,Bannon SA,You YN,Lynch PM,Ramirez PT,Rodriguez-Bigas MA,Vilar E

更新日期：2016-10-01 00:00:00

abstract：OBJECTIVE:To determine the indications, patterns of practice, and complication rates for prophylactic oophorectomy in Ontario. METHODS:From hospital discharge abstracts, 82 hospitals were identified where at least one patient had a prophylactic oophorectomy since 1992. Ethics approval for the chart review was obtained...

journal_title：Familial cancer

authors： Elit L,Rosen B,Goel V,McLaughlin J,Fung MK,Shime J,Narod S

更新日期：2001-01-01 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：: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：: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：: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：: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：:PTCH1 and SUFU are both regulators of the sonic hedgehog signalling pathway. Germline inactivating mutations in both genes are associated with multisystem phenotypes including medulloblastoma. Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas. Recently, SUFU mutations...

journal_title：Familial cancer

authors： Slade I,Murray A,Hanks S,Kumar A,Walker L,Hargrave D,Douglas J,Stiller C,Izatt L,Rahman N

更新日期：2011-06-01 00:00:00

abstract：:Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene heredit...

journal_title：Familial cancer

authors： Sutcliffe EG,Bartenbaker Thompson A,Stettner AR,Marshall ML,Roberts ME,Susswein LR,Wang Y,Klein RT,Hruska KS,Solomon BD

更新日期：2019-04-01 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：:The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism a...

journal_title：Familial cancer

authors： Hao X,Xia L,Qu R,Yang X,Jiang M,Zhou B

更新日期：2018-07-01 00:00:00

abstract：:We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypoth...

journal_title：Familial cancer

authors： Palanca S,de Juan I,Perez-Simó G,Barragán E,Chirivella I,Martínez E,Fuster O,Bolufer P

更新日期：2013-03-01 00:00:00