Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

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：: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：: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：:Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficie...

journal_title：Familial cancer

authors： Wang T,Stadler ZK,Zhang L,Weiser MR,Basturk O,Hechtman JF,Vakiani E,Saltz LB,Klimstra DS,Shia J

更新日期：2018-04-01 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：: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：: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：:Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify H...

journal_title：Familial cancer

authors： Nilbert M,Therkildsen C,Nissen A,Akerman M,Bernstein I

更新日期：2009-01-01 00:00:00

abstract：:The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular oxygene sensing and signaling. Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paragan...

journal_title：Familial cancer

authors： Pawlu C,Bausch B,Neumann HP

更新日期：2005-01-01 00:00:00

abstract：:New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primaril...

journal_title：Familial cancer

authors： Hakkaart C,Ellison-Loschmann L,Day R,Sporle A,Koea J,Harawira P,Cheng S,Gray M,Whaanga T,Pearce N,Guilford P

更新日期：2019-01-01 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：:Dominantly inherited syndromes of colorectal cancer predisposition are characterized by multifocal neoplasia with an early age of onset. The risk of colorectal cancer is high in affected patients and care of the patients is based on the aims of cancer prevention and cancer cure. At the same time, quality of life shoul...

journal_title：Familial cancer

authors： Church JM

更新日期：2016-07-01 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

abstract：:The implementation of regular colonoscopy programs has significantly decreased the mortality associated with colorectal cancer (CRC) in Lynch syndrome patients. However, interval CRCs in Lynch syndrome that remain undetected by colonoscopy still represent a substantial problem in the management of the syndrome. One po...

journal_title：Familial cancer

authors： Ahadova A,von Knebel Doeberitz M,Bläker H,Kloor M

更新日期：2016-10-01 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：: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：: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：:MUTYH is associated with colorectal cancer (CRC) risk. We studied the frequency of MUTYH and risk of CRC in Arabs, North African and European Jews. Participants were all 593 Sephardi Moroccan Jews (232 cases, 361 controls) and all 631 Arabs (327 cases, 304 controls) recruited into a population-based study of colorecta...

journal_title：Familial cancer

authors： Lejbkowicz F,Cohen I,Barnett-Griness O,Pinchev M,Poynter J,Gruber SB,Rennert G

更新日期：2012-09-01 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：: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：:Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and P...

journal_title：Familial cancer

authors： Goverde A,Spaander MCW,Nieboer D,van den Ouweland AMW,Dinjens WNM,Dubbink HJ,Tops CJ,Ten Broeke SW,Bruno MJ,Hofstra RMW,Steyerberg EW,Wagner A

更新日期：2018-07-01 00:00:00

abstract：:Lynch syndrome (LS) is a genetic condition conferring an elevated risk of gastrointestinal, gynecologic and other malignancies, often before the age of 50. Current guidelines recommend prophylactic gynecologic surgery to manage inherited cancers for female mutation carriers. Data is lacking on women's quality of life ...

journal_title：Familial cancer

authors： Etchegary H,Dicks E,Tamutis L,Dawson L

更新日期：2018-01-01 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：:Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study has examined this among BRCA1/2 mutation carriers. The objectives of this study were to: (1) describe the ...

journal_title：Familial cancer

authors： Farrelly A,White V,Meiser B,Jefford M,Young MA,Ieropoli S,Winship I,Duffy J

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：: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：:Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variant...

journal_title：Familial cancer

authors： Lynch PM

更新日期：2008-01-01 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：: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：: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