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Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study

Whether germline (g) breast cancer susceptibility gene (BRCA) mutations are located within or outside the ovarian cancer cluster region (OCCR) (1380‐4062 bp for gBRCA1, and between 3249‐5681 bp and 6645‐7471 bp for gBRCA2) may influence risk variations for ovarian cancers. This ad hoc analysis of th...

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Autores principales: Yoshihara, Kosuke, Enomoto, Takayuki, Aoki, Daisuke, Watanabe, Yoh, Kigawa, Junzo, Takeshima, Nobuhiro, Inomata, Hyoe, Hattori, Kana, Jinushi, Masahisa, Tsuda, Hitoshi, Sugiyama, Toru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469841/
https://www.ncbi.nlm.nih.gov/pubmed/32495382
http://dx.doi.org/10.1111/cas.14513
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author Yoshihara, Kosuke
Enomoto, Takayuki
Aoki, Daisuke
Watanabe, Yoh
Kigawa, Junzo
Takeshima, Nobuhiro
Inomata, Hyoe
Hattori, Kana
Jinushi, Masahisa
Tsuda, Hitoshi
Sugiyama, Toru
author_facet Yoshihara, Kosuke
Enomoto, Takayuki
Aoki, Daisuke
Watanabe, Yoh
Kigawa, Junzo
Takeshima, Nobuhiro
Inomata, Hyoe
Hattori, Kana
Jinushi, Masahisa
Tsuda, Hitoshi
Sugiyama, Toru
author_sort Yoshihara, Kosuke
collection PubMed
description Whether germline (g) breast cancer susceptibility gene (BRCA) mutations are located within or outside the ovarian cancer cluster region (OCCR) (1380‐4062 bp for gBRCA1, and between 3249‐5681 bp and 6645‐7471 bp for gBRCA2) may influence risk variations for ovarian cancers. This ad hoc analysis of the CHARLOTTE epidemiological study in Japan assessed the distribution of gBRCA1/2 mutations in patients with newly diagnosed ovarian cancer, and investigated an association between gBRCA1/2 mutation locations and ovarian cancer risk. Differences in patient background and clinical characteristics in subgroups stratified by gBRCA1/2 mutation locations were also evaluated. We analyzed the data of 93 patients (14.7%) from the CHARLOTTE study who were positive for gBRCA1/2 mutations. After excluding 16 cases with L63X founder mutation, 28 (65.1%) of gBRCA1 mutations were within the OCCR. Of 30 gBRCA2 mutations, 15 (50.0%) were within the OCCR. Of 27 patients (one patient excluded for unknown family history) with gBRCA1 mutations located in the OCCR, 11 (40.7%) had a family history of ovarian cancer; the proportion of patients with a family history of ovarian cancer and gBRCA1 mutations outside the OCCR was lower (13.3%). Sixty percent of patients with gBRCA1 mutations outside the OCCR had a family history of breast cancer; the proportion of patients with a family history of breast cancer and gBRCA1 mutations within the OCCR was relatively lower (33.3%). Understanding the mutation locations may contribute to more accurate risk assessments of susceptible individuals and early detection of ovarian cancer among gBRCA mutation carriers.
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spelling pubmed-74698412020-09-09 Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study Yoshihara, Kosuke Enomoto, Takayuki Aoki, Daisuke Watanabe, Yoh Kigawa, Junzo Takeshima, Nobuhiro Inomata, Hyoe Hattori, Kana Jinushi, Masahisa Tsuda, Hitoshi Sugiyama, Toru Cancer Sci Original Articles Whether germline (g) breast cancer susceptibility gene (BRCA) mutations are located within or outside the ovarian cancer cluster region (OCCR) (1380‐4062 bp for gBRCA1, and between 3249‐5681 bp and 6645‐7471 bp for gBRCA2) may influence risk variations for ovarian cancers. This ad hoc analysis of the CHARLOTTE epidemiological study in Japan assessed the distribution of gBRCA1/2 mutations in patients with newly diagnosed ovarian cancer, and investigated an association between gBRCA1/2 mutation locations and ovarian cancer risk. Differences in patient background and clinical characteristics in subgroups stratified by gBRCA1/2 mutation locations were also evaluated. We analyzed the data of 93 patients (14.7%) from the CHARLOTTE study who were positive for gBRCA1/2 mutations. After excluding 16 cases with L63X founder mutation, 28 (65.1%) of gBRCA1 mutations were within the OCCR. Of 30 gBRCA2 mutations, 15 (50.0%) were within the OCCR. Of 27 patients (one patient excluded for unknown family history) with gBRCA1 mutations located in the OCCR, 11 (40.7%) had a family history of ovarian cancer; the proportion of patients with a family history of ovarian cancer and gBRCA1 mutations outside the OCCR was lower (13.3%). Sixty percent of patients with gBRCA1 mutations outside the OCCR had a family history of breast cancer; the proportion of patients with a family history of breast cancer and gBRCA1 mutations within the OCCR was relatively lower (33.3%). Understanding the mutation locations may contribute to more accurate risk assessments of susceptible individuals and early detection of ovarian cancer among gBRCA mutation carriers. John Wiley and Sons Inc. 2020-08-02 2020-09 /pmc/articles/PMC7469841/ /pubmed/32495382 http://dx.doi.org/10.1111/cas.14513 Text en © 2020 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Original Articles
Yoshihara, Kosuke
Enomoto, Takayuki
Aoki, Daisuke
Watanabe, Yoh
Kigawa, Junzo
Takeshima, Nobuhiro
Inomata, Hyoe
Hattori, Kana
Jinushi, Masahisa
Tsuda, Hitoshi
Sugiyama, Toru
Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study
title Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study
title_full Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study
title_fullStr Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study
title_full_unstemmed Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study
title_short Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study
title_sort association of gbrca1/2 mutation locations with ovarian cancer risk in japanese patients from the charlotte study
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469841/
https://www.ncbi.nlm.nih.gov/pubmed/32495382
http://dx.doi.org/10.1111/cas.14513
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