NDLI: DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

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Familial Cancer : Volume 16, Issue 2, April 2017

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer

Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores

Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

Pain evaluation during gynaecological surveillance in women with Lynch syndrome

Attenuated polyposis of the large bowel: a morphologic and molecular approach

Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome

Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency

Colonoscopy in Lynch syndrome: the need for a new quality score

TP53 and CDKN1A mutation analysis in families with Li–Fraumeni and Li–Fraumeni like syndromes

Cystic parathyroid glands in MEN1: A rare entity?

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

A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro)

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Four generations of SDHB-related disease: complexities in management

All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

Recurrent TP53 missense mutation in cancer patients of Arab descent

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

Familial Cancer : Volume 16, Issue 1, January 2017

Familial Cancer : Volume 15

Familial Cancer : Volume 14

Familial Cancer : Volume 13

Familial Cancer : Volume 12

Familial Cancer : Volume 11

Familial Cancer : Volume 10

Familial Cancer : Volume 9

Familial Cancer : Volume 8

Familial Cancer : Volume 7

Familial Cancer : Volume 6

Familial Cancer : Volume 5

Familial Cancer : Volume 4

Familial Cancer : Volume 3

Familial Cancer : Volume 2

Familial Cancer : Volume 1

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

Content Provider	Springer Nature Link
Author	Bardón Cancho, Eduardo J. Haro Díaz, Ana Alonso García de la Rosa, Francisco J. Huerta Aragonés, Jorge García Morín, Marina González Martínez, Felipe Garrido Coli, Carmen
Copyright Year	2016
Abstract	The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.
Starting Page	291
Ending Page	294
Page Count	4
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	16
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2016-11-09
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	DICER1 tumor predisposition syndrome Pleuropulmonary blastoma Cystic nephroma Familial tumor predisposition syndrome Cancer Research Human Genetics Epidemiology Biomedicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Familial cystic nephroma in two siblings with pleuropulmonary blastoma

Familial cystic nephroma and pleuropulmonary blastoma

Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome.

Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1

A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma

Familial cystic nephroma in two siblings.

DICER1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome

DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

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