Common MUTYH mutations and colorectal cancer risk in multiethnic populations.

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：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：: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：: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：: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：: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：:Individuals who carry pathogenic mutations in DNA mismatch repair (MMR) genes have high risks of cancer, and small studies have suggested that these risks depend on the sex of the parent from whom the mutation was inherited. We have conducted the first large study of such a parent-of-origin effect (POE). Our study was...

journal_title：Familial cancer

authors： Gemechu SD,van Vliet CM,Win AK,Figueiredo JC,Le Marchand L,Gallinger S,Newcomb PA,Hopper JL,Lindor NM,Jenkins MA,Dowty JG

更新日期：2020-07-01 00:00:00

abstract：:Prediction models for the identification of Lynch syndrome have been developed to quantify an individual's risk of carrying a mismatch repair gene mutation and help clinicians decide for whom further risk assessment and genetic testing is necessary. There are diverse clinical settings in which a healthcare provider ha...

journal_title：Familial cancer

authors： Kastrinos F,Balmaña J,Syngal S

更新日期：2013-06-01 00:00:00

abstract：:Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants i...

journal_title：Familial cancer

authors： Jelsig AM,Bertelsen B,Forss I,Karstensen JG

更新日期：2020-06-06 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：: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：: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

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：: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：: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：: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：: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：:Hereditary nonpolyposis colorectal cancer (HNPCC) is a multi-organ cancer syndrome associated with heritable mutations in DNA mismatch repair genes, particularly MLH1 (MutL Homologue 1) and MSH2 (MutS Homologue 2). We took advantage of the unique characteristics of the Finnish HNPCC families to assess genotype- phenot...

journal_title：Familial cancer

authors： Peltomäki P,Gao X,Mecklin JP

更新日期：2001-01-01 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 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：: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：: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：: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：: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：: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：BACKGROUND:Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease. We conducted a systematic review of the literature to determine the quality and strength of evidence relating to psychological outcomes of geneti...

journal_title：Familial cancer

authors： Braithwaite D,Emery J,Walter F,Prevost AT,Sutton S

更新日期：2006-01-01 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：:Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister died of the disease. The brother survived the HB and was later diagno...

journal_title：Familial cancer

authors： Evers C,Gaspar H,Kloor M,Bozukova G,Kadmon M,Keller M,Sutter C,Moog U

更新日期：2012-09-01 00:00:00