• 검색 결과가 없습니다.

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

N/A
N/A
Protected

Academic year: 2021

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

Copied!
2
0
0

로드 중.... (전체 텍스트 보기)

전체 글

(1)

1/2 https://ejgo.org

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.

1. 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.

2. The mutation and mutation type of case CHAPC-011 was corrected

“c.2808_2011delACAA” to “c.2808_2811delACAA” and “p.Lys936fs” to “p.Ala938Profs.”

3. 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.

4. The variant descriptions of “p.Leu630Val-” in the case CHATC-001 was corrected to

“p.Leu630Val”.

5. 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).

J Gynecol Oncol. 2018 Sep;29(5):e80 https://doi.org/10.3802/jgo.2018.29.e80 pISSN 2005-0380·eISSN 2005-0399

Erratum

Copyright © 2018. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://

creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

ORCID iDs Min Chul Choi

https://orcid.org/0000-0003-4509-6731 Jin-Sik Bae

https://orcid.org/0000-0002-6897-8115 Sang Geun Jung

https://orcid.org/0000-0002-0635-6994 Hyun Park

https://orcid.org/0000-0002-7825-9165 Won Duk Joo

https://orcid.org/0000-0003-4637-6946 Chan Lee

https://orcid.org/0000-0003-1654-4398 Ji-Ho Kim

https://orcid.org/0000-0001-6774-7553 Ki-Chan Lee

https://orcid.org/0000-0003-3582-9487 Sunghoon Lee

https://orcid.org/0000-0002-6682-119X

Min Chul Choi ,

1,2

Jin-Sik Bae ,

3

Sang Geun Jung ,

2

Hyun Park ,

2

Won Duk Joo ,

2

Seung Hun Song,

2

Chan Lee ,

2

Ji-Ho Kim ,

3

Ki-Chan Lee ,

3

Sunghoon Lee ,

3

Je Ho Lee

1,2

1 Hereditary Gynecologic Cancer Clinic, Precision Medicine Center, CHA Bundang Medical Center, CHA University, Seongnam, Korea

2 Department of Obstetrics and Gynecology, Comprehensive Gynecologic Cancer Center, CHA Bundang Medical Center, CHA University, Seongnam, Korea

3Eone-Diagnomics Genome Center (EDGC), Incheon, Korea

Erratum: Prevalence of germline

BRCA mutations among women with carcinoma of the peritoneum or

fallopian tube

This corrects the article “Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube” in volume 29, e43.

(2)

REFERENCES

1. Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, et al. Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube. J Gynecol Oncol 2018;29:e43.

PUBMED | CROSSREF

2. Caggiari L, Miolo G, Buonadonna A, Basile D, Santeufemia DA, Cossu A, et al. Characterizing metastatic HER2-positive gastric cancer at the CDH1 haplotype. Int J Mol Sci 2018;19:47.

PUBMED | CROSSREF

2/2 https://ejgo.org https://doi.org/10.3802/jgo.2018.29.e80

Table 2. Detected germline mutations and VUS of BRCA1/2, TP53, PTEN, CDH1, PALB2 genes in PC/FTC patients

Case Age

(yr) Cancer Gene Site Mutation Mutation

type Double

primary* Family

history FH of other cancer Pathogenic mutations

CHAPC-001 34 PC BRCA1 IVS c.212+1G>T - - Pancreas

(father) Gall bladder (mother)

CHAPC-003 69 PC BRCA2 Exon 3 c.199_211del13 p.Arg67Ilefs - Breast (sister),

Prostate (father) -

CHAPC-011 60 PC BRCA2 Exon 11 c.2808_2811delACAA p.Ala938Profs Breast

cancer - Cervix (patient),

Brain (father)

CHAPC-014 38 PC BRCA1 Exon 11 c.922_924delAGCinsT p.Ser308Terfs - Ovary (grandmother),

Peritoneal (cousin sister), Pancreas (cousin)

Endometrial (cousin sister)

CHATC-003 34 FTC BRCA1 Exon 21 c.5339T>C p.Leu1780Pro - - Stomach

(father, grandmother)

CHATC-005 56 FTC BRCA1 Exon 10 c.3895C>T p.Gln1299Ter - Ovary (sister)

VUS

CHAPC-002 56 PC TP53 Exon 5 c.516T>G p.Val172= - - -

CHAPC-004 81 PC BRCA1 Exon 10 c.824G>A p.Gly275Asp - - -

CHAPC-005 43 PC BRCA2 Exon 10 c.964A>C p.Lys322Gln - - -

CHAPC-008 80 PC BRCA2 Exon 14 c.7050C>T p.Thr2350= - - -

CDH1 IVS c.2164+15_2164+16insA -

CHAPC-009 74 PC CDH1 IVS c.2164+15_2164+16insA - - Breast (daughter) -

CHAPC-010 84 PC CDH1 IVS c.2164+15_2164+16insA - - - -

CHAPC-012 50 PC BRCA1 Exon 10 c.2247T>C p.Asp749= - Breast (mother) Thyroid (patient)

CHATC-001 35 FTC BRCA2 Exon 14 c.7307A>T p.Asn2436Ile - - -

CDH1 Exon 12 c.1888C>G p.Leu630Val

CHATC-005 56 FTC TP53 Exon 6 c.566C>T p.Ala189Val - Ovary (sister) -

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.

수치

Table 2. Detected germline mutations and VUS of BRCA1/2, TP53, PTEN, CDH1, PALB2 genes in PC/FTC patients

참조

관련 문서

The meeting was attended by Assistant Foreign Minister for GCC Affairs, Ambassador, Nasser Al-Muzayyen, and Deputy Assistant Foreign Minister for the Office of the

“ Sheikh Nasser has a written message from HH the Amir, Sheikh Sabah Al-Ahmad Al-Jaber Al-Sabah to the Chinese President, Chi Gen Beng related to enhancing mutual

On his part, CEO of Express Roads Authority, Saud Al-Naqqi said that the heavy rains of the previous day led to clogging parts of the express

Kuwait will celebrate on Sunday the fourth anniversary of the UN honoring and proclamation of His Highness the Amir, Sheikh Sabah Al-Ahmad Al-Jaber Al-Sabah as

• 이명의 치료에 대한 매커니즘과 디지털 음향 기술에 대한 상업적으로의 급속한 발전으로 인해 치료 옵션은 증가했 지만, 선택 가이드 라인은 거의 없음.. •

The proposal of the cell theory as the birth of contemporary cell biology Microscopic studies of plant tissues by Schleiden and of animal tissues by Microscopic studies of

 Concerned with the cultural representation of women, as a masculinist fantasy with no relation to real women, or as the appropriation of women’s bodies to masculine

웹 표준을 지원하는 플랫폼에서 큰 수정없이 실행 가능함 패키징을 통해 다양한 기기를 위한 앱을 작성할 수 있음 네이티브 앱과