当前位置： SCI文献检索 > Familial Cancer期刊下所有文献 > Chemoprevention of familial adenomatous polyposis.

Chemoprevention of familial adenomatous polyposis.

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 this paper I selectively review the findings from these studies, highlighting trial design issues and in particular some of the limitations of historical and existing trial endpoint measures. Nonsteroidal anti-inflammatory agents have been the most commonly employed chemopreventive agents. Sulindac, largely by historical accident, has been the most extensively studied, and is widely considered the standard of care when a clinical decision to intervene medically is made. Newer trials are evaluating combinations of agents in order to take advantage of differing mechanisms of action, in the hope of achieving synergy, as no single agent predictably or completely suppresses adenoma growth. Some of these studies and other single-agent interventions are discussed, though an exploration of the various mechanisms of action is beyond the scope of this paper. It is essential that future trials focus on the issue of "clinical benefit", not simply because the US Food and Drug Administration has insisted on it, but because only real evidence-based advances can improve the standard of medical care for FAP patients. Hence my focus on issues of trial design and clinically relevant endpoints.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

Lynch PM

doi

10.1007/s10689-016-9901-9

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

467-75

issue

3

eissn

1389-9600

issn

1573-7292

pii

10.1007/s10689-016-9901-9

journal_volume

15

pub_type

杂志文章,评审

相关文献

Familial Cancer文献大全
  • Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

    abstract：:The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these g...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-015-9824-x

    authors： Win AK,Reece JC,Buchanan DD,Clendenning M,Young JP,Cleary SP,Kim H,Cotterchio M,Dowty JG,MacInnis RJ,Tucker KM,Winship IM,Macrae FA,Burnett T,Le Marchand L,Casey G,Haile RW,Newcomb PA,Thibodeau SN,Lindor NM,Hopper

    更新日期：2015-12-01 00:00:00

  • Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0031-9

    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

  • Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.

    abstract：:Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first repor...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0012-z

    authors： Silva-Smith R,Sussman DA

    更新日期：2018-01-01 00:00:00

  • Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00167-4

    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

  • Juvenile nasopharyngeal angiofibroma: no evidence for inheritance or association with familial adenomatous polyposis.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9331-z

    authors： Klockars T,Renkonen S,Leivo I,Hagström J,Mäkitie AA

    更新日期：2010-09-01 00:00:00

  • Lack of germ-line mutations at the specific BRCA1-IRIS coding sequence in 114 Spanish high-risk breast/ovarian families.

    abstract：:A new BRCA1 locus product called BRCA1-IRIS has been identified recently. High-risk breast/ovarian families have not been screened for germ-line mutations at the specific BRCA1-IRIS coding sequence, as it was considered merely as part of BRCA1 intron 11. Here we report the first comprehensive screening of germ-line mu...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-005-1236-x

    authors： de la Hoya M,Fernández JM,Sánchez de Abajo A,Tosar A,Díaz-Rubio E,Caldés T

    更新日期：2005-01-01 00:00:00

  • Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

    abstract：BACKGROUND:Three mutations in BRCA1 (185delAG 5382InsC) and BRCA2 (6174delT) can be detected in a substantial proportion of Jewish Ashkenazi breast/ovarian cancer families. Family-specific pathogenic mutations in both genes can be detected in up to 5% of high risk Ashkenazim. The contribution of major gene rearrangemen...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-008-9216-6

    authors： Distelman-Menachem T,Shapira T,Laitman Y,Kaufman B,Barak F,Tavtigian S,Friedman E

    更新日期：2009-01-01 00:00:00

  • Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9334-9

    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

  • Microsatellite instability testing in Korean patients with colorectal cancer.

    abstract：:Microsatellite instability (MSI) testing is useful for identifying patients with hereditary nonpolyposis colorectal cancer and detecting sporadic colorectal cancer that develops through replication error pathways. A pentaplex panel is recommended by the National Cancer Institute for MSI testing, but simplified mononuc...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9536-4

    authors： Oh JR,Kim DW,Lee HS,Lee HE,Lee SM,Jang JH,Kang SB,Ku JL,Jeong SY,Park JG

    更新日期：2012-09-01 00:00:00

  • Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis.

    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

    pub_type： 杂志文章,meta分析,评审

    doi：10.1007/s10689-017-0056-0

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

    更新日期：2018-07-01 00:00:00

  • Common MUTYH mutations and colorectal cancer risk in multiethnic populations.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9516-8

    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

  • Determining the familial risk distribution of colorectal cancer: a data mining approach.

    abstract：:This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Family histories for 10,066 colorectal cancer cases recruited to population cancer registries of the Colon Cancer Family Registry were analyzed using a data mining framework. A novel index wa...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-015-9860-6

    authors： Chau R,Jenkins MA,Buchanan DD,Ait Ouakrim D,Giles GG,Casey G,Gallinger S,Haile RW,Le Marchand L,Newcomb PA,Lindor NM,Hopper JL,Win AK

    更新日期：2016-04-01 00:00:00

  • Cancer genetic predisposition: information needs of patients irrespective of risk level.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9256-6

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

    更新日期：2009-01-01 00:00:00

  • Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9939-8

    authors： Levin T,Mæhle L

    更新日期：2017-04-01 00:00:00

  • Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-9997-6

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

    更新日期：2018-01-01 00:00:00

  • Can a phenotype for recessive inheritance in breast cancer be defined?

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9355-4

    authors： Ellberg C,Jönsson G,Olsson H

    更新日期：2010-12-01 00:00:00

  • Screening behavior in women at increased familial risk for breast cancer.

    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

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10689-006-0006-8

    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

  • An investigation of the factors effecting high-risk individuals' decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC).

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9910-8

    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

  • Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9952-y

    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

  • Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

    abstract：:Lynch syndrome is an autosomal dominant cancer susceptibility syndrome characterized by the early development of microsatellite unstable colorectal, endometrial and other cancers. Lynch syndrome is caused by germline heterozygous loss-of-function sequence mutations within the mismatch repair genes MLH1, MSH2, MSH6 or ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9314-0

    authors： Kwok CT,Ward RL,Hawkins NJ,Hitchins MP

    更新日期：2010-09-01 00:00:00

  • The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

    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

    pub_type： 历史文章,杂志文章

    doi：10.1007/s10689-013-9616-0

    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

  • Pain evaluation during gynaecological surveillance in women with Lynch syndrome.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9937-x

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

    更新日期：2017-04-01 00:00:00

  • Are prediction models for Lynch syndrome valid for probands with endometrial cancer?

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9273-5

    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

  • Roles and responsibilities of a medical geneticist.

    abstract：:Medical geneticists must generate a differential diagnosis, practice evidence-based medicine, and apply ethical, legal, and social issue (ELSI) principles in the clinical setting. Several clinical scenarios are presented which illustrate dilemmas in the cancer genetics setting. These include the differential diagnosis...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9148-6

    authors： Rubinstein WS

    更新日期：2008-01-01 00:00:00

  • Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-006-9115-7

    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

  • Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study.

    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

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s10689-016-9889-1

    authors： Daly MB,Montgomery S,Bingler R,Ruth K

    更新日期：2016-10-01 00:00:00

  • Ovarian small cell carcinoma in one of a pair of monozygous twins.

    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

    pub_type： 信件

    doi：10.1007/s10689-018-0108-0

    authors： Fahiminiya S,Sabbaghian N,Albrecht S,Nadaf J,Callegaro-Filho D,Foulkes WD

    更新日期：2019-04-01 00:00:00

  • Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-019-00144-6

    authors： Ndugga-Kabuye MK,Issaka RB

    更新日期：2019-10-01 00:00:00

  • Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0039-1

    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

  • Pitfalls in the diagnosis of biallelic PMS2 mutations.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-015-9793-0

    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