Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report

Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Dongmei Chen [verfasserIn] Chenyang Zhang [verfasserIn] Mengqi Yuan [verfasserIn] Ying Zhang [verfasserIn] Qing Liu [verfasserIn] Donggui Wan [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	triple-negative breast cancer TP53 BRCA1/2 young breast cancer gene mutation

Übergeordnetes Werk:	In: Frontiers in Oncology - Frontiers Media S.A., 2012, 12(2022)
Übergeordnetes Werk:	volume:12 ; year:2022

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3389/fonc.2022.970641

Katalog-ID:	DOAJ025604724

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520			\|a Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a young age before menopause. There is currently no report of early onset breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes. Here, we report a case of a 14-years-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival after subsequent chemotherapy and surgery has been 2 years and 10 months. The patient’s white blood cells were screened against a panel of 11 cancer-related genes, and both germline pathogenic variants in BRCA1 and TP53 were identified. Genetic tests of her family members revealed the same pathogenic variants in BRCA1 in her father and brother, but BRCA1 pathogenic variants wasn’t shown in other family members. The case indicates that genetic testing needs be performed in early onset breast cancer to confirm inherited risk, and if a germline pathogenic variant is identified, tailored therapeutic interventions and preventive interventions should be taken and genetic testing is recommended for relatives.
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spelling	10.3389/fonc.2022.970641 doi (DE-627)DOAJ025604724 (DE-599)DOAJ888981f395b24eb68f9dc5e8ca55cbc4 DE-627 ger DE-627 rakwb eng RC254-282 Dongmei Chen verfasserin aut Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a young age before menopause. There is currently no report of early onset breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes. Here, we report a case of a 14-years-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival after subsequent chemotherapy and surgery has been 2 years and 10 months. The patient’s white blood cells were screened against a panel of 11 cancer-related genes, and both germline pathogenic variants in BRCA1 and TP53 were identified. Genetic tests of her family members revealed the same pathogenic variants in BRCA1 in her father and brother, but BRCA1 pathogenic variants wasn’t shown in other family members. The case indicates that genetic testing needs be performed in early onset breast cancer to confirm inherited risk, and if a germline pathogenic variant is identified, tailored therapeutic interventions and preventive interventions should be taken and genetic testing is recommended for relatives. triple-negative breast cancer TP53 BRCA1/2 young breast cancer gene mutation Neoplasms. Tumors. Oncology. Including cancer and carcinogens Chenyang Zhang verfasserin aut Mengqi Yuan verfasserin aut Ying Zhang verfasserin aut Qing Liu verfasserin aut Donggui Wan verfasserin aut In Frontiers in Oncology Frontiers Media S.A., 2012 12(2022) (DE-627)684965518 (DE-600)2649216-7 2234943X nnns volume:12 year:2022 https://doi.org/10.3389/fonc.2022.970641 kostenfrei https://doaj.org/article/888981f395b24eb68f9dc5e8ca55cbc4 kostenfrei https://www.frontiersin.org/articles/10.3389/fonc.2022.970641/full kostenfrei https://doaj.org/toc/2234-943X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022
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language	English
source	In Frontiers in Oncology 12(2022) volume:12 year:2022
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topic_facet	triple-negative breast cancer TP53 BRCA1/2 young breast cancer gene mutation Neoplasms. Tumors. Oncology. Including cancer and carcinogens
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container_title	Frontiers in Oncology
authorswithroles_txt_mv	Dongmei Chen @@aut@@ Chenyang Zhang @@aut@@ Mengqi Yuan @@aut@@ Ying Zhang @@aut@@ Qing Liu @@aut@@ Donggui Wan @@aut@@
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callnumber-first	R - Medicine
author	Dongmei Chen
spellingShingle	Dongmei Chen misc RC254-282 misc triple-negative breast cancer misc TP53 misc BRCA1/2 misc young breast cancer misc gene mutation misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
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topic_title	RC254-282 Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report triple-negative breast cancer TP53 BRCA1/2 young breast cancer gene mutation
topic	misc RC254-282 misc triple-negative breast cancer misc TP53 misc BRCA1/2 misc young breast cancer misc gene mutation misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens
topic_unstemmed	misc RC254-282 misc triple-negative breast cancer misc TP53 misc BRCA1/2 misc young breast cancer misc gene mutation misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens
topic_browse	misc RC254-282 misc triple-negative breast cancer misc TP53 misc BRCA1/2 misc young breast cancer misc gene mutation misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens
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title	Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
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title_full	Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
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author_browse	Dongmei Chen Chenyang Zhang Mengqi Yuan Ying Zhang Qing Liu Donggui Wan
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title_sort	adolescent triple-negative breast cancer with germline pathogenic variants in both brca1 and tp53 genes: a case report
callnumber	RC254-282
title_auth	Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
abstract	Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a young age before menopause. There is currently no report of early onset breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes. Here, we report a case of a 14-years-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival after subsequent chemotherapy and surgery has been 2 years and 10 months. The patient’s white blood cells were screened against a panel of 11 cancer-related genes, and both germline pathogenic variants in BRCA1 and TP53 were identified. Genetic tests of her family members revealed the same pathogenic variants in BRCA1 in her father and brother, but BRCA1 pathogenic variants wasn’t shown in other family members. The case indicates that genetic testing needs be performed in early onset breast cancer to confirm inherited risk, and if a germline pathogenic variant is identified, tailored therapeutic interventions and preventive interventions should be taken and genetic testing is recommended for relatives.
abstractGer	Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a young age before menopause. There is currently no report of early onset breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes. Here, we report a case of a 14-years-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival after subsequent chemotherapy and surgery has been 2 years and 10 months. The patient’s white blood cells were screened against a panel of 11 cancer-related genes, and both germline pathogenic variants in BRCA1 and TP53 were identified. Genetic tests of her family members revealed the same pathogenic variants in BRCA1 in her father and brother, but BRCA1 pathogenic variants wasn’t shown in other family members. The case indicates that genetic testing needs be performed in early onset breast cancer to confirm inherited risk, and if a germline pathogenic variant is identified, tailored therapeutic interventions and preventive interventions should be taken and genetic testing is recommended for relatives.
abstract_unstemmed	Almost 5-10% of breast cancer results from inherited genetic pathogenic variants. Patients with pathogenic variants in high-penetrance genes such as TP53, BRCA1 and BRCA2 are susceptible to breast cancer. Moreover, nearly 80% of BRCA pathogenic variants carriers are diagnosed with breast cancer at a young age before menopause. There is currently no report of early onset breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes. Here, we report a case of a 14-years-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival after subsequent chemotherapy and surgery has been 2 years and 10 months. The patient’s white blood cells were screened against a panel of 11 cancer-related genes, and both germline pathogenic variants in BRCA1 and TP53 were identified. Genetic tests of her family members revealed the same pathogenic variants in BRCA1 in her father and brother, but BRCA1 pathogenic variants wasn’t shown in other family members. The case indicates that genetic testing needs be performed in early onset breast cancer to confirm inherited risk, and if a germline pathogenic variant is identified, tailored therapeutic interventions and preventive interventions should be taken and genetic testing is recommended for relatives.
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title_short	Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
url	https://doi.org/10.3389/fonc.2022.970641 https://doaj.org/article/888981f395b24eb68f9dc5e8ca55cbc4 https://www.frontiersin.org/articles/10.3389/fonc.2022.970641/full https://doaj.org/toc/2234-943X
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author2	Chenyang Zhang Mengqi Yuan Ying Zhang Qing Liu Donggui Wan
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