Prediction models in Lynch syndrome.

abstract：:CAPP1 tested aspirin 600 mg/day and/or resistant starch 30 g/day in 200 adolescent FAP carriers. Aspirin treatment resulted in a non-significant reduction in polyp number and a significant reduction in polyp size among patients treated with aspirin for more than 1 year. CAPP2 RCT used the same interventions in 937 Lyn...

journal_title：Familial cancer

authors： Burn J,Mathers JC,Bishop DT

更新日期：2013-12-01 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：:While a dominant inheritance of breast cancer (vertical inheritance) is well known, less is known about a possible recessive inheritance (horizontal inheritance). In a clinical series of 1676 breast cancer patient's family history was scored as vertical (grandmother-aunt-mother-sister-daughter) or horizontal (sister-s...

journal_title：Familial cancer

authors： Ellberg C,Jönsson G,Olsson H

更新日期：2010-12-01 00:00:00

abstract：:A diagnosis of clear cell chondrosarcoma of the ulna was made in a patient with Von Hippel-Lindau disease (VHL). After surgery, genetic analysis of the tumor tissue showed loss of heterozygosity at the VHL gene locus. Immunohistochemical analysis confirmed loss of expression of the VHL protein in the tumor cells. In a...

journal_title：Familial cancer

authors： Dreijerink KMA,van Leeuwaarde RS,Hackeng WM,Giles RH,de Leng WWJ,Jutte PC,Suurmeijer AJH,van Nesselrooij BPM,Brosens LAA

更新日期：2020-01-01 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

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：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：: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：:BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of premenopausal breast canc...

journal_title：Familial cancer

authors： Henningson M,Bågeman E,Sandberg T,Borg A,Olsson H,Jernström H

更新日期：2007-01-01 00:00:00

abstract：:Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identif...

journal_title：Familial cancer

authors： Metcalfe A,Werrett J,Burgess L,Chapman C,Clifford C

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：: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：: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：: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：: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 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：: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：: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：: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：: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：:Familial adenomatous polyposis (FAP) has always been first and foremost a surgical disease, whose treatment with colectomy has long been known to reduce risk of premature cancer death. The notion of reducing polyp burden and potentially delaying surgical intervention has spawned a host of "chemoprevention" trials. In ...

journal_title：Familial cancer

authors： Lynch PM

更新日期：2016-07-01 00:00:00

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：:Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit ...

journal_title：Familial cancer

authors： Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton J

更新日期：2016-10-01 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：: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：: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：: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：:Genomic rearrangement occasionally affects the BRCA1/2 genes in Caucasian breast cancer patients. However, the incidence of BRCA1/2 genomic rearrangement in Asians, including the Korean population, has not been well established. Here, we investigated the contribution of BRCA1/2 genomic rearrangement to high-risk breas...

journal_title：Familial cancer

authors： Seong MW,Cho SI,Noh DY,Han W,Kim SW,Park CM,Park HW,Kim SY,Kim JY,Park SS

更新日期：2009-01-01 00:00:00

abstract：:Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. Mutation carriers are at risk of colorectal and endometrial cancer and, less frequently, cancer of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and br...

journal_title：Familial cancer

authors： Blokhuis MM,Pietersen GE,Goldberg PA,Algar U,Van der Merwe L,Mbatani N,Vorster AA,Ramesar RS

更新日期：2010-09-01 00:00:00