Literature DB >> 30022640

Erratum: Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Min Chul Choi1,2, Jin Sik Bae3, Sang Geun Jung2, Hyun Park2, Won Duk Joo2, Seung Hun Song2, Chan Lee2, Ji Ho Kim3, Ki Chan Lee3, Sunghoon Lee3, Je Ho Lee1,2.   

Abstract

This corrects the article on p. e43 in vol. 29, PMID: 29770616.
Copyright © 2018. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology.

Entities:  

Year:  2018        PMID: 30022640      PMCID: PMC6078884          DOI: 10.3802/jgo.2018.29.e80

Source DB:  PubMed          Journal:  J Gynecol Oncol        ISSN: 2005-0380            Impact factor:   4.401


The original article by Choi et al. entitled, “Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube” [1] contained errors. Both the variant nomenclature of “p.Arg67fs” in CHAPC-003 and “p.Arg67Ilefs” are suitable according to Human Genome Variation Society (HGVS) recommendation. However, we have corrected “p.Arg67fs” to “p.Arg67Ilefs” in order to represent it in a more unified form with the other frame-shift variants. The mutation and mutation type of case CHAPC-011 was corrected “c.2808_2011delACAA” to “c.2808_2811delACAA” and “p.Lys936fs” to “p.Ala938Profs.” The variant description of "c.2164+16->A" in the cases CHAPC-008, CHAPC-009 and CHAPC-010 is the nomenclature of Annovar algorithm which was used to annotate mutations. It was changed to “c.2164+15_2164+16insA” according to the HGVS recommendation. This variation was described as variant of uncertain significance (VUS) in this article because it was unavailable in ClinVar at the time of publication. Meanwhile, in a recently published article by Caggiari et al. [2], the reference single nucleotide polymorphisms (SNPs) ID number of this variation was mentioned as “rs35686369” and it was described as benign in ClinVar. The variant descriptions of “p.Leu630Val-” in the case CHATC-001 was corrected to “p.Leu630Val”. In addition, we have also inserted hyphens in ‘Double primary,’ ‘Family history,’ and ‘FH of other cancer’ columns in the Table 2. We attached the corrected Table 2 as shown below (modified values were underlined, except error 5). Table 2. Detected germline mutations and VUS of BRCA1/2, TP53, PTEN, CDH1, PALB2 genes in PC/FTC patients FH, family history; FTC, fallopian tube cancer; PC, primary peritoneal cancer; VUS, variants of unknown clinical significance. *Breast cancer history of patient's own, †Family history of BRCA-related cancer within second degree relatives.
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1.  Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Authors:  Min Chul Choi; Jin Sik Bae; Sang Geun Jung; Hyun Park; Won Duk Joo; Seung Hun Song; Chan Lee; Ji Ho Kim; Ki Chan Lee; Sunghoon Lee; Je Ho Lee
Journal:  J Gynecol Oncol       Date:  2018-03-26       Impact factor: 4.401

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Review 1.  The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.

Authors:  Yousef M Hawsawi; Nouf S Al-Numair; Turki M Sobahy; Areej M Al-Ajmi; Raneem M Al-Harbi; Mohammed A Baghdadi; Atif A Oyouni; Osama M Alamer
Journal:  Mol Genet Genomic Med       Date:  2019-07-17       Impact factor: 2.183

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