Masami Arai

Hongo, 1138421, Japan

Last Updated: 09/26/2026

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Found 84 publications

A Lynch syndrome patient with multiple cancers who was found to have a novel pathogenic variant generating aberrant splicing of MLH1.

A Lynch syndrome patient with multiple cancers who was found to have a novel pathogenic variant generating aberrant splicing of MLH1.

Journal: Japanese journal of clinical oncology

Published: March 08, 2026

Somatic Mosaic AXIN2-associated Colonic Polyposis Predominantly Involving the Proximal Colon: A Case Report.

Somatic Mosaic AXIN2-associated Colonic Polyposis Predominantly Involving the Proximal Colon: A Case Report.

Journal: DEN open

Published: February 17, 2026

Reclassification of a BRCA2 variant, c.8487G > A (p.Gln2829Gln) located at 3' end of exon 19, from uncertain significance to likely pathogenic based on splicing alteration: a case report.

Reclassification of a BRCA2 variant, c.8487G > A (p.Gln2829Gln) located at 3' end of exon 19, from uncertain significance to likely pathogenic based on splicing alteration: a case report.

Journal: Japanese journal of clinical oncology

Published: January 31, 2026

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

Journal: Taiwanese journal of obstetrics & gynecology

Published: November 03, 2025

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Journal: Journal of medical genetics

Published: October 18, 2025

Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.

Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.

Journal: Case reports in oncology

Published: September 01, 2025

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Journal: Japanese journal of clinical oncology

Published: July 09, 2025

Clinicopathologic features and contralateral breast cancer risk in BRCA1/2 pathogenic variant carriers: a multicenter registry study of Japanese women.

Clinicopathologic features and contralateral breast cancer risk in BRCA1/2 pathogenic variant carriers: a multicenter registry study of Japanese women.

Journal: Breast cancer research and treatment

Published: July 08, 2025

Surgical and radiation considerations in breast cancer with neurofibromatosis type 1: A case report and literature review.

Surgical and radiation considerations in breast cancer with neurofibromatosis type 1: A case report and literature review.

Journal: International journal of surgery case reports

Published: June 06, 2025

Two-hit events occurred independently in bilateral breast cancers in a germline double heterozygous carrier for BRCA1 and BRCA2.

Two-hit events occurred independently in bilateral breast cancers in a germline double heterozygous carrier for BRCA1 and BRCA2.

Journal: Breast cancer (Tokyo, Japan)

Published: March 20, 2025

Analysis of the conditions for applying BRCA genetic testing to women with breast cancer using the Japanese HBOC consortium and the Japanese organization of hereditary breast and ovarian cancer (JOHBOC) registry project database.

Analysis of the conditions for applying BRCA genetic testing to women with breast cancer using the Japanese HBOC consortium and the Japanese organization of hereditary breast and ovarian cancer (JOHBOC) registry project database.

Journal: Breast cancer (Tokyo, Japan)

Published: December 18, 2024

Correction: Development of a novel prediction model for carriage of BRCA1/2 pathogenic variant in Japanese patients with breast cancer based on Japanese organization of hereditary breast and ovarian cancer registry data.

Correction: Development of a novel prediction model for carriage of BRCA1/2 pathogenic variant in Japanese patients with breast cancer based on Japanese organization of hereditary breast and ovarian cancer registry data.

Journal: Breast cancer research and treatment

Published: November 09, 2024

Showing 1-12 of 84

Last Updated: 09/26/2026