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Objectives: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC; however, the association of mutations in both genes with cancer has not been thoroughly investigated. Thus, our aims were to investigate gBRCA mutation frequency in a cohort of postmenopausal Brazilian BC patients and the association of gBRCA1/BRCA2 and PIK3CA somatic mutations.

Methods: Forty-nine postmenopausal (>55 years) and forty-one young (≤35 years) BC patients were included in this study. The postmenopausal group included patients who reported a positive family history of cancer. For these patients, gBRCA1/BRCA2 were sequenced using next-generation sequencing (NGS) or Sanger sequencing. Data for gBRCA in young patients were already available from a previous study. DNA from formalin-fixed, paraffin-embedded (FFPE) tumors was obtained from 27 postmenopausal and 41 young patients for analyzing exons 9 and 20 of PIK3CA. The association between gBRCA1/BRCA2 and somatic mutations in PIK3CA was investigated.

Results: The overall frequency of gBRCA1/BRCA2 among the 49 postmenopausal patients was 10.2%. The frequencies of somatic mutations in PIK3CA in the postmenopausal and young patients were 37% and 17%, respectively (ns). The most common PIK3CA mutation was found to be E454A. Nonsense and frameshift mutations, which may counteract the oncogenic potential of PIK3CA were also detected. Regardless of age, 25% of BRCA1/BRCA2 mutation carriers and non-carriers , each, had PIK3CA somatic mutations.

Conclusions: Data obtained indicate that BRCA1/BRCA2 gene testing may be considered for postmenopausal patients with BC who have a family history of cancer. Although some of them are not considered pathogenic, somatic variants of PIK3CA are frequently observed in BC patients, especially in postmenopausal patients.

Titel:	Germline and Somatic mutations in postmenopausal breast cancer patients.
Autor/in / Beteiligte Person:	Nagy, TR ; Maistro, S ; Encinas, G ; Katayama, MLH ; Pereira, GFL ; Gaburo-Júnior, N ; Franco, LAM ; Gouvêa, ACRC ; Diz, MDPE ; Leite, LAS ; Folgueira, MAAK
Link:	Full Text Finder (Volltext)
Zeitschrift:	Clinics (Sao Paulo, Brazil), Jg. 76 (2021-07-16), S. e2837
Veröffentlichung:	2022- : [New York] : Elsevier ; <i>Original Publication</i>: São Paulo, SP : Hospital das Clínicas, Faculty of Medicine, University of São Paulo, [2005]-, 2021
Medientyp:	academicJournal
ISSN:	1980-5322 (electronic)
DOI:	10.6061/clinics/2021/e2837
Schlagwort:	Adult Brazil Female Genetic Predisposition to Disease genetics Germ Cells Germ-Line Mutation Humans Middle Aged Mutation Postmenopause Breast Neoplasms genetics Ovarian Neoplasms
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Clinics (Sao Paulo)] 2021 Jul 16; Vol. 76, pp. e2837. <i>Date of Electronic Publication: </i>2021 Jul 16 (<i>Print Publication: </i>2021). MeSH Terms: Breast Neoplasms* / genetics ; Ovarian Neoplasms* ; Adult ; Brazil ; Female ; Genetic Predisposition to Disease / genetics ; Germ Cells ; Germ-Line Mutation ; Humans ; Middle Aged ; Mutation ; Postmenopause References: Nucleic Acids Res. 2006 Mar 06;34(5):1317-25. (PMID: 16522644) ; BMC Cancer. 2016 Dec 3;16(1):934. (PMID: 27914478) ; Nature. 2016 Aug 17;536(7616):285-91. (PMID: 27535533) ; Nature. 2009 Apr 9;458(7239):719-24. (PMID: 19360079) ; PLoS One. 2012;7(10):e46688. (PMID: 23056405) ; Rev Assoc Med Bras (1992). 2015 Sep-Oct;61(5):474-83. (PMID: 26603012) ; JAMA. 2020 Mar 10;323(10):995-997. (PMID: 32154851) ; Genome Res. 2001 May;11(5):863-74. (PMID: 11337480) ; J Genet Eng Biotechnol. 2018 Jun;16(1):71-76. (PMID: 30647707) ; Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5. (PMID: 24234437) ; Clin Cancer Res. 2012 Mar 1;18(5):1341-51. (PMID: 22261811) ; Oncotarget. 2018 Apr 27;9(32):22460-22479. (PMID: 29854292) ; Hum Mutat. 2017 Jul;38(7):751-763. (PMID: 28332257) ; Cancer Res. 2006 Aug 15;66(16):8297-308. (PMID: 16912212) ; Cancer Res. 2005 Jun 1;65(11):4562-7. (PMID: 15930273) ; Hum Mutat. 2000;15(1):86-94. (PMID: 10612827) ; J Natl Cancer Inst. 2019 Dec 1;111(12):1279-1297. (PMID: 31145458) ; Cell Cycle. 2004 Oct;3(10):1221-4. (PMID: 15467468) ; Nature. 2012 Nov 1;491(7422):56-65. (PMID: 23128226) ; Tumour Biol. 2016 Jun;37(6):7033-45. (PMID: 26921096) ; Nat Genet. 1994 Dec;8(4):399-404. (PMID: 7894493) ; Rev Saude Publica. 2018 Nov 29;52:94. (PMID: 30517521) ; Clin Cancer Res. 2009 Aug 15;15(16):5049-59. (PMID: 19671852) ; Breast Cancer Res. 2008;10(2):R27. (PMID: 18371219) ; Hematol Oncol Stem Cell Ther. 2014 Dec;7(4):142-8. (PMID: 25467032) ; Cancers (Basel). 2020 Jul 17;12(7):. (PMID: 32708835) ; Cancer Discov. 2012 Nov;2(11):1048-63. (PMID: 22915751) ; Breast Cancer Res. 2012 Feb 13;14(1):R28. (PMID: 22330809) ; Cancer Res. 2005 Dec 1;65(23):10992-1000. (PMID: 16322248) ; N Engl J Med. 2003 Jun 5;348(23):2339-47. (PMID: 12788999) ; PLoS One. 2013;8(3):e57581. (PMID: 23469205) ; Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. (PMID: 22144684) ; J Clin Oncol. 2013 Nov 1;31(31):3997-4013. (PMID: 24101045) ; J Clin Oncol. 2002 Mar 15;20(6):1480-90. (PMID: 11896095) ; Clinics (Sao Paulo). 2012 Nov;67(11):1285-90. (PMID: 23184205) ; Hum Mutat. 2016 Jun;37(6):564-9. (PMID: 26931183) ; Hum Mol Genet. 1999 Mar;8(3):413-23. (PMID: 9971877) ; Oncotarget. 2016 Dec 6;7(49):80465-80481. (PMID: 27741520) ; Hum Mutat. 1999;14(4):333-9. (PMID: 10502781) ; Nat Commun. 2018 Oct 4;9(1):4083. (PMID: 30287823) ; Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. (PMID: 32091409) ; CA Cancer J Clin. 2017 Nov;67(6):439-448. (PMID: 28972651) ; J Med Genet. 2006 Apr;43(4):295-305. (PMID: 16014699) ; Proc Natl Acad Sci U S A. 2007 Mar 27;104(13):5569-74. (PMID: 17376864) ; Breast Cancer Res. 2013;15(4):R69. (PMID: 23971979) ; Clin Cancer Res. 2007 Jan 15;13(2 Pt 1):408-14. (PMID: 17202311) ; Science. 2019 Nov 8;366(6466):714-723. (PMID: 31699932) ; Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) ; Hum Mutat. 2018 May;39(5):593-620. (PMID: 29446198) ; Int J Biol Sci. 2017 Nov 1;13(11):1387-1397. (PMID: 29209143) ; Cancer Biol Ther. 2006 May;5(5):544-8. (PMID: 16582596) ; Nat Methods. 2010 Apr;7(4):248-9. (PMID: 20354512) ; Curr Opin Cell Biol. 2017 Apr;45:62-71. (PMID: 28343126) ; J Natl Cancer Inst. 2013 Jul 3;105(13):960-7. (PMID: 23739063) ; Nucleic Acids Res. 2009 May;37(9):e67. (PMID: 19339519) ; Sci Rep. 2018 Jun 15;8(1):9188. (PMID: 29907814) ; N Engl J Med. 2016 Aug 4;375(5):443-53. (PMID: 27433846) ; Clin Cancer Res. 2017 Oct 15;23(20):6113-6119. (PMID: 28724667) Entry Date(s): Date Created: 20210721 Date Completed: 20210803 Latest Revision: 20220629 Update Code: 20231215 PubMed Central ID: PMC8266163

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Germline and Somatic mutations in postmenopausal breast cancer patients.