Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report

Grazia Lazzari,1 Maria Iole Natalicchio,2 Angela Terlizzi,3 Francesco Perri,4 Giovanni Silvano1 1Radiation Oncology Unit, San Giuseppe Moscati Hospital, Taranto, 2Molecular Biology Laboratory, Pathological Anatomy Department, Ospedali Riuniti, Foggia, 3Medical Physic Unit, San Giuseppe Moscati Hospi...

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Autores principales:	Lazzari G, Natalicchio MI, Terlizzi A, Perri F, Silvano G
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	radiosensivity SNP's fibrosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/0388e5d88d734fe19c1fedcece986625
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spelling	oai:doaj.org-article:0388e5d88d734fe19c1fedcece9866252021-12-02T05:35:27ZSingle nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report1179-1314https://doaj.org/article/0388e5d88d734fe19c1fedcece9866252017-05-01T00:00:00Zhttps://www.dovepress.com/single-nucleotide-polymorphisms-and-unacceptable-late-toxicity-in-brea-peer-reviewed-article-BCTThttps://doaj.org/toc/1179-1314Grazia Lazzari,1 Maria Iole Natalicchio,2 Angela Terlizzi,3 Francesco Perri,4 Giovanni Silvano1 1Radiation Oncology Unit, San Giuseppe Moscati Hospital, Taranto, 2Molecular Biology Laboratory, Pathological Anatomy Department, Ospedali Riuniti, Foggia, 3Medical Physic Unit, San Giuseppe Moscati Hospital, 4Medical Oncology Unit, Presidio Ospedaliero Centrale - Santissima Annunziata, Taranto, Italy Background: There has recently been a strong interest in the inter-individual variation in normal tissue and tumor response to radiotherapy (RT), because tissue radiosensitivity seems to be under genetic control. Evidence is accumulating on the role of polymorphic genetic variants, such as single nucleotide polymorphisms (SNPs) that could influence normal tissue response after radiation. The most studied SNPs include those in genes involved in DNA repair (single- and double-strand breaks, and base excision) and those active in the response to oxidative stress.Case report: We present the case report of a 60-year-old woman with early breast cancer who underwent adjuvant hormone therapy and conventional radiotherapy, and subsequently developed unacceptable cosmetic toxicities of the irradiated breast requiring a genetic test of genes involved in DNA repair mechanisms. The patient was found to be heterozygous for G28152A (T/C) and C18067T (A/G) mutations in X-ray repair cross-complementing group 1 (XRCC1) and 3 (XRCC3), respectively, homozygous for A313G (G/G) mutation in glutathione S transferase Pi 1 (GSTP1), and wild-type for A4541G (A/A) in XRCC3 and G135C (G/G) in RAD51 recombinase.Conclusion: The role of SNPs should be taken into account when a severe phenomenon appears in normal tissues after radiation treatment, because understanding the molecular basis of individual radiosensitivity may be useful for identifying moderately or extremely radiosensitive patients who may need tailored therapeutic strategies. Keywords: radiosensitivity, SNPs, fibrosis, DNA repairLazzari GNatalicchio MITerlizzi APerri FSilvano GDove Medical PressarticleradiosensivitySNP'sfibrosisNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENBreast Cancer: Targets and Therapy, Vol Volume 9, Pp 401-406 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	radiosensivity SNP's fibrosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	radiosensivity SNP's fibrosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Lazzari G Natalicchio MI Terlizzi A Perri F Silvano G Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
description	Grazia Lazzari,1 Maria Iole Natalicchio,2 Angela Terlizzi,3 Francesco Perri,4 Giovanni Silvano1 1Radiation Oncology Unit, San Giuseppe Moscati Hospital, Taranto, 2Molecular Biology Laboratory, Pathological Anatomy Department, Ospedali Riuniti, Foggia, 3Medical Physic Unit, San Giuseppe Moscati Hospital, 4Medical Oncology Unit, Presidio Ospedaliero Centrale - Santissima Annunziata, Taranto, Italy Background: There has recently been a strong interest in the inter-individual variation in normal tissue and tumor response to radiotherapy (RT), because tissue radiosensitivity seems to be under genetic control. Evidence is accumulating on the role of polymorphic genetic variants, such as single nucleotide polymorphisms (SNPs) that could influence normal tissue response after radiation. The most studied SNPs include those in genes involved in DNA repair (single- and double-strand breaks, and base excision) and those active in the response to oxidative stress.Case report: We present the case report of a 60-year-old woman with early breast cancer who underwent adjuvant hormone therapy and conventional radiotherapy, and subsequently developed unacceptable cosmetic toxicities of the irradiated breast requiring a genetic test of genes involved in DNA repair mechanisms. The patient was found to be heterozygous for G28152A (T/C) and C18067T (A/G) mutations in X-ray repair cross-complementing group 1 (XRCC1) and 3 (XRCC3), respectively, homozygous for A313G (G/G) mutation in glutathione S transferase Pi 1 (GSTP1), and wild-type for A4541G (A/A) in XRCC3 and G135C (G/G) in RAD51 recombinase.Conclusion: The role of SNPs should be taken into account when a severe phenomenon appears in normal tissues after radiation treatment, because understanding the molecular basis of individual radiosensitivity may be useful for identifying moderately or extremely radiosensitive patients who may need tailored therapeutic strategies. Keywords: radiosensitivity, SNPs, fibrosis, DNA repair
format	article
author	Lazzari G Natalicchio MI Terlizzi A Perri F Silvano G
author_facet	Lazzari G Natalicchio MI Terlizzi A Perri F Silvano G
author_sort	Lazzari G
title	Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
title_short	Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
title_full	Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
title_fullStr	Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
title_full_unstemmed	Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
title_sort	single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/0388e5d88d734fe19c1fedcece986625
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Single nucleotide polymorphisms and unacceptable late toxicity in breast cancer adjuvant radiotherapy: a case report

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