Genetic variation in gonadal impairment in female survivors of childhood cancer: a PanCareLIFE study protocol

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F18%3A10381205" target="_blank" >RIV/00064203:_____/18:10381205 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/18:00069094 RIV/00159816:_____/18:00069094 RIV/00216208:11130/18:10381205

Result on the web

<a href="https://doi.org/10.1186/s12885-018-4834-3" target="_blank" >https://doi.org/10.1186/s12885-018-4834-3</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s12885-018-4834-3" target="_blank" >10.1186/s12885-018-4834-3</a>

Result language

angličtina

Original language name

Genetic variation in gonadal impairment in female survivors of childhood cancer: a PanCareLIFE study protocol

Original language description

Background: Improved risk stratification, more effective therapy and better supportive care have resulted in survival rates after childhood cancer of around 80% in developed countries. Treatment however can be harsh, and three in every four childhood cancer survivors (CCS) develop at least one late effect, such as gonadal impairment. Gonadal impairment can cause involuntary childlessness, with serious consequences for the well-being of CCS. In addition, early menopause increases the risk of comorbidities such as cardiovascular disease and osteoporosis. Inter-individual variability in susceptibility to therapy related gonadal impairment suggests a role for genetic variation. Currently, only one candidate gene study investigated genetic determinants in relation to gonadal impairment in female CCS; it yielded one single nucleotide polymorphism (SNP) that was previously linked with the predicted age at menopause in the general population of women, now associated with gonadal impairment in CCS. Additionally, one genome wide association study (GWAS) evaluated an association with premature menopause, but no GWAS has been performed using endocrine measurements for gonadal impairment as the primary outcome in CCS. Methods: As part of the PanCareLIFE study, the genetic variability of chemotherapy induced gonadal impairment among CCS will be addressed. Gonadal impairment will be determined by anti-Mullerian hormone (AMH) levels or alternatively by fertility and reproductive medical history retrieved by questionnaire. Clinical and genetic data from 837 non-brain or non-bilateral gonadal irradiated long-term CCS will result in the largest clinical European cohort assembled for this late-effect study to date. A candidate gene study will examine SNPs that have already been associated with age at natural menopause and DNA maintenance in the general population. In addition, a GWAS will be performed to identify novel allelic variants. The results will be validated in an independent CCS cohort. Discussion: This international collaboration aims to enhance knowledge of genetic variation which may be included in risk prediction models for gonadal impairment in CCS.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30204 - Oncology

Project

<a href="/en/project/7E13036" target="_blank" >7E13036: PanCare Studies in Fertility and Ototoxicity to Improve Quality of Life after Cancer during Childhood, Adolescence and Young Adulthood</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

BMC Cancer

ISSN

1471-2407

e-ISSN

—

Volume of the periodical

18

Issue of the periodical within the volume

September

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

930

UT code for WoS article

000445958600007

EID of the result in the Scopus database

2-s2.0-85054092877