当前位置： SCI文献检索 > Familial Cancer期刊下所有文献 > Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

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 associated with other known tumor syndromes is usually not performed. However, a few studies in large series of CRC patients suggest that in a small percentage of CRC cases, bi-allelic MUTYH germline mutations can be found in the absence of the MUTYH-associated polyposis phenotype. This has not been studied in the Dutch population. Therefore, we analyzed the MUTYH gene for mutations in 89 patients with microsatellite-low or stable CRC cancer diagnosed before the age of 40 years or otherwise meeting the Bethesda criteria, all of them without a polyposis phenotype. In addition, we studied a series of 693 non-CRC patients with 1-13 adenomatous colorectal polyps for the MUTYH hotspot mutations Y179C, G396D and P405L. No bi-allelic MUTYH mutations were observed. Our data suggest that the contribution of bi-allelic MUTYH mutations to the development of CRC in Dutch non-polyposis patients that meet clinical genetic referral criteria, and to the development of low number of colorectal adenomas in non-CRC patients, is likely to be low.

journal_name

Fam Cancer

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

doi

10.1007/s10689-012-9570-2

subject

Has Abstract

pub_date

2013-03-01 00:00:00

pages

43-50

issue

1

eissn

1389-9600

issn

1573-7292

journal_volume

12

pub_type

杂志文章,评审

相关文献

Familial Cancer文献大全
  • The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.

    abstract：:Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this study, the rate of these mutations in high-risk Jews of North African and...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1023/B:FAME.0000026837.32470.b4

    authors： Gal I,Gershoni Baruch R,Haber D,Dagan E,Eisenberg-Barzilai S,Zidan J,Friedman E

    更新日期：2004-01-01 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

  • Gonadal mosaicism and familial adenomatous polyposis.

    abstract：:De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9169-1

    authors： Schwab AL,Tuohy TM,Condie M,Neklason DW,Burt RW

    更新日期：2008-01-01 00:00:00

  • Two BRCA1/2 founder mutations in Jews of Sephardic origin.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-010-9395-9

    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

  • Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-013-9623-1

    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

  • Interest in, willingness-to-pay for and willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy.

    abstract：:Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer"...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-018-0101-7

    authors： Mayer M,Selig K,Tüttelmann F,Dinkel A,Gschwend JE,Herkommer K

    更新日期：2019-04-01 00:00:00

  • Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome.

    abstract：:Lynch syndrome is the most frequent hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 300 in the Western population. It is caused by pathogenic variants in the mismatch repair (MMR) genes including MLH1, MSH2 (EPCAM), MSH6 and PMS2, and is associated with high risks of CRC, endometrial cancer a...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-020-00225-x

    authors： Vasen HFA

    更新日期：2021-01-19 00:00:00

  • Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9902-8

    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

  • Adult weight gain and central obesity in women with and without a family history of breast cancer: a case control study.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9122-3

    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

  • NTHL1-associate polyposis: first Australian case report.

    abstract：:While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, poly...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-018-0107-1

    authors： Groves A,Gleeson M,Spigelman AD

    更新日期：2019-04-01 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

  • 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 po...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9899-z

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

    更新日期：2016-10-01 00:00:00

  • Discovery of mutations in homologous recombination genes in African-American women with breast cancer.

    abstract：:African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0036-4

    authors： Ding YC,Adamson AW,Steele L,Bailis AM,John EM,Tomlinson G,Neuhausen SL

    更新日期：2018-04-01 00:00:00

  • Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9276-2

    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

  • Selective COX-2 inhibition affects fatty acids, but not COX mRNA expression in patients with FAP.

    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

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s10689-010-9365-2

    authors： Almendingen K,Larsen LN,Fausa O,Bratlie J,Høstmark AT,Aabakken L

    更新日期：2010-12-01 00:00:00

  • Chemoprevention with special reference to inherited colorectal cancer.

    abstract：:Familial Adenomatous Polyposis (FAP) is a model for the adenoma-carcinoma sequence in several respects. One important area in which FAP serves as a model is chemoprevention. Early prevention trials mainly utilized micronutrients and were largely unsuccessful in preventing or causing regression of adenomas. A new era w...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9158-4

    authors： Lynch PM

    更新日期：2008-01-01 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

  • 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

  • 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

  • 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

  • Genetic counseling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: perspective of a surgical oncologist.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9167-3

    authors： Silva E

    更新日期：2008-01-01 00:00:00

  • Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort.

    abstract：INTRODUCTION:Prospective collection of epidemiological, psychosocial and outcome data in large breast cancer family cohorts should provide less biased data than retrospective studies regarding penetrance of breast cancer and modifiers of genetic risk. METHODS:The Kathleen Cuningham Foundation for Research into Breast ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-004-6129-x

    authors： Phillips KA,Butow PN,Stewart AE,Chang JH,Weideman PC,Price MA,McLachlan SA,Lindeman GJ,McKay MJ,Friedlander ML,Hopper JL,kConFab Investigators.

    更新日期：2005-01-01 00:00:00

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

    abstract：:Pathological features and consequently, tumor response differ between BRCA1/2 carriers and sporadic breast cancer (BC) cases. It is expected that BRCA1/2 associated tumors will be more vulnerable to DNA damaging agents and irradiation due to their function in DNA repair. In addition, very high pathological complete re...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-008-9223-7

    authors： Hubert A,Mali B,Hamburger T,Rottenberg Y,Uziely B,Peretz T,Kadouri L

    更新日期：2009-01-01 00:00:00

  • Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-018-00116-2

    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

  • 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

  • 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

  • Hereditary diffuse gastric cancer: cancer risk and the personal cost of preventive surgery.

    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

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10689-019-00133-9

    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

  • 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

  • The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.

    abstract：:Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rh...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9957-6

    authors： Witkowski L,Donini N,Byler-Dann R,Knost JA,Albrecht S,Berchuck A,McCluggage WG,Hasselblatt M,Foulkes WD

    更新日期：2017-07-01 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