High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.

doi:10.1007/s12282-024-01615-0

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High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.

Breast cancer (Tokyo, Japan) - 1 Nov 2024

Yoshida Reiko, Kaneyasu Tomoko, Ueki Arisa, Yamauchi Hideko, Ohsumi Shozo, Ohno Shinji, Aoki Daisuke, Baba Shinichi, Kawano Junko, Matsumoto Naomichi, Nagasaki Masao, Ueno Takayuki, Inari Hitoshi, Kobayashi Yusuke, Takei Junko, Gotoh Osamu, Nishi Mitsuyo, Okamura Miki, Kaneko Keika, Okawa Megumi, Suzuki Misato, Amino Sayuri, Inuzuka Mayuko, Noda Tetsuo, Mori Seiichi, Nakamura Seigo

Abstract excerpt

BACKGROUND: Tailored, preventive cancer care requires the identification of pathogenic germline variants (PGVs) among potentially at-risk blood relatives (BRs). Cascade testing is carried out for BRs of probands who are positive for PGVs of an inherited cancer but not for negative probands. This study was conducted to examine the prevalence of PGVs for BRs of PGV-negative probands. METHODS: PGV prevalence was...

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Identifiers

PMID: 39003386
DOI: 10.1007/s12282-024-01615-0
PMCID: PMC11489291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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