当前位置： SCI文献检索 > Familial Cancer期刊下所有文献 > CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.

CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.

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 possible reason of interval cancers could be a non-polypous pathway of cancer development. To examine the possibility of a non-polypous pathway of CRC development in Lynch syndrome, we analyzed the histological appearance of 46 Lynch syndrome-associated CRCs and compared them to 34 sporadic microsatellite unstable cancers. We observed that 25 (62.5 %) out of 40 assessable Lynch syndrome-associated carcinomas lacked evidence of polypous growth, compared to 17 (50 %) out of 34 sporadic MSI-H cancers. We detected CTNNB1 mutations in 8 (17.4 %) out of 46 Lynch syndrome-associated cancers compared to 0 out of 34 sporadic MSI-H cancers (p = 0.01). The majority of CTNNB1-mutant cancers presented with a histological appearance suggesting immediate invasive growth. Our results suggest that a distinct subgroup of CRCs in Lynch syndrome may in fact emerge from a non-polypous precursor, thus potentially explaining the phenomenon of interval cancers. Such a non-polypous precursor may be the recently described mismatch repair-deficient crypt focus, which remains invisible for the examiner during colonoscopy. This calls for considering the implementation of active, primary preventive measures in the management of Lynch syndrome. Future studies on pathogenic pathways and precursor lesions in Lynch syndrome are strongly encouraged, and the clinical efficacy of new prevention approaches should be evaluated in prospective clinical trials.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

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

doi

10.1007/s10689-016-9899-z

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

579-86

issue

4

eissn

1389-9600

issn

1573-7292

pii

10.1007/s10689-016-9899-z

journal_volume

15

pub_type

杂志文章

相关文献

Familial Cancer文献大全
  • Prediction models in Lynch syndrome.

    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

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-013-9632-0

    authors： Kastrinos F,Balmaña J,Syngal S

    更新日期：2013-06-01 00:00:00

  • Cancer in Jews: introduction and overview.

    abstract：:This article is based upon a literature overview of cancer in Jews. It involves a comparison of variation in incidence and prevalence rates between Jews and non-Jews. However, the reader must exercise a certain amount of skepticism when considering secular changes in cancer incidence and prevalence and the public heal...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-004-9538-y

    authors： Lynch HT,Rubinstein WS,Locker GY

    更新日期：2004-01-01 00:00:00

  • Familial melanoma: a complex disorder leading to controversy on DNA testing.

    abstract：:The initial enthusiasm generated by the discovery of the first susceptibility gene found for melanoma has slightly dampened over recent years. For the majority of melanoma families the underlying gene defect is still not known, so the search for other melanoma genes is continuing. Also, the increased risk of melanoma ...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1023/a:1025758527675

    authors： de Snoo FA,Bergman W,Gruis NA

    更新日期：2003-01-01 00:00:00

  • Do individuals with a family history of colorectal cancer adhere to medical recommendations for the prevention of colorectal cancer?

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-013-9627-x

    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

  • Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.

    abstract：:Colorectal cancer (CRC) risk associated with germline monoallelic MUTYH mutations remains controversial, although a slightly increased risk for this disease has been suggested. MUTYH and MSH6 proteins act in cooperation during the DNA repair process. Based on this interaction, it was hypothesized that the combination ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9282-4

    authors： Giráldez MD,Balaguer F,Caldés T,Sanchez-de-Abajo A,Gómez-Fernández N,Ruiz-Ponte C,Muñoz J,Garre P,Gonzalo V,Moreira L,Ocaña T,Clofent J,Carracedo A,Andreu M,Jover R,Llor X,Castells A,Castellví-Bel S,Gastrointestinal O

    更新日期：2009-01-01 00:00:00

  • Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9538-2

    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

  • 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

  • Disclosing cancer genetic information within families: perspectives of counselees and their at-risk relatives.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9364-3

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

    更新日期：2010-12-01 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

  • Hereditary medullary thyroid carcinoma syndromes: experience from western India.

    abstract：:The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00219-9

    authors： Diwaker C,Sarathi V,Jaiswal SK,Shah R,Deshmukh A,Thomas AE,Prakash G,Malhotra G,Patil V,Lila A,Shah N,Bandgar T

    更新日期：2021-01-04 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

  • A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9587-6

    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

  • 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 ...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-016-9901-9

    authors： Lynch PM

    更新日期：2016-07-01 00:00:00

  • Hereditary ovarian cancer in Ashkenazi Jews.

    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

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-004-9552-0

    authors： Robles-Díaz L,Goldfrank DJ,Kauff ND,Robson M,Offit K

    更新日期：2004-01-01 00:00:00

  • Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

    abstract：AIM:This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS:This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival par...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-006-9101-0

    authors： Einbeigi Z,Bergman A,Meis-Kindblom JM,Flodin A,Bjursell C,Martinsson T,Kindblom LG,Wahlström J,Wallgren A,Nordling M,Karlsson P

    更新日期：2007-01-01 00:00:00

  • Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

    abstract：:Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of mal...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9954-9

    authors： Marafie MJ,Dashti M,Al-Mulla F

    更新日期：2017-07-01 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

  • 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

  • Nurse-led cancer genetics clinics in primary and secondary care in varied ethnic population areas: interaction with primary care to improve ascertainment of individuals from ethnic minorities.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9128-x

    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

  • Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations.

    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

    pub_type： 杂志文章

    doi：10.1023/a:1011564720772

    authors： Peltomäki P,Gao X,Mecklin JP

    更新日期：2001-01-01 00:00:00

  • Lynch Syndrome in high risk Ashkenazi Jews in Israel.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-013-9675-2

    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

  • Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9532-8

    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

  • 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

  • Cancer genetics in rural primary care: a pilot nurse-led service using a new mobile IT system.

    abstract：:Somerset has a relatively high incidence of cancer. The county is very rural with pockets of deprivation and sizeable areas of poor access to services. The Cancer Plan advocates early identification of cancer and identified the genetic revolution as having the potential to predict risk, and detect and diagnose cancer ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9133-0

    authors： Tozer D,Lugton C

    更新日期：2007-01-01 00:00:00

  • Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

    abstract：:Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1 and BRCA2 in high risk brea...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-011-9422-5

    authors： Hansen TV,Jønson L,Steffensen AY,Andersen MK,Kjaergaard S,Gerdes AM,Ejlertsen B,Nielsen FC

    更新日期：2011-06-01 00:00:00

  • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-018-0070-x

    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

  • 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

  • An analysis of the efficacy of serial screening for familial nasopharyngeal carcinoma based on Markov chain models.

    abstract：:Treatment of nasopharyngeal carcinoma (NPC) can be improved by early detection of the disease as treatment outcome worsens with disease's progression. This can be achieved with a mass screening program using Epstein Barr virus (EBV) serology and nasopharyngoscopy. The efficacy of any screening strategy should be evalu...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9397-7

    authors： Choi CW,Lee MC,Ng WT,Law LY,Yau TK,Lee AW

    更新日期：2011-03-01 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

  • Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis.

    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

    pub_type： 杂志文章,meta分析,评审

    doi：10.1007/s10689-005-2577-1

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

    更新日期：2006-01-01 00:00:00