Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer.

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：: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：: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：: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：: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

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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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：PURPOSE:The aim of the present descriptive study was to investigate the experience of sharing genetic information among cancer genetic counselees and their at-risk relatives. METHODS:In total, 147 cancer genetic counselees and 81 of their at-risk relatives answered to a study specific questionnaire and/or were intervi...

journal_title：Familial cancer

authors： Hayat Roshanai A,Lampic C,Rosenquist R,Nordin K

更新日期：2010-12-01 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 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：:In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathog...

journal_title：Familial cancer

authors： Laner A,Benet-Pages A,Neitzel B,Holinski-Feder E

更新日期：2020-07-01 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：:Individuals with a family history of colorectal cancer (CRC), have a two-to-five-fold increased lifetime risk to develop CRC. Thus, they are particularly likely to benefit from adherence to medical recommendations for CRC prevention. Despite this increased risk, previous studies have shown an underutilization of colon...

journal_title：Familial cancer

authors： Bronner K,Mesters I,Weiss-Meilnik A,Geva R,Rozner G,Strul H,Inbar M,Halpern Z,Kariv R

更新日期：2013-12-01 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：: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：: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：:Founder mutations in BRCA1/2 genes have been detected in several Jewish communities in Israel, including in Ashkenazi Jews and Jews who immigrated to Israel from Iraq, Yemen, Iran and Afghanistan. We analyzed DNA samples of patients of Sephardic origin (descendents of Jews from the Iberian Peninsula) with breast cance...

journal_title：Familial cancer

authors： Sagi M,Eilat A,Ben Avi L,Goldberg Y,Bercovich D,Hamburger T,Peretz T,Lerer I

更新日期：2011-03-01 00:00:00