{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:40:04Z","timestamp":1756294804759,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,24]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>The case is a woman in her 60s with a heterozygous germline variant in <jats:italic>PALB2<\/jats:italic> (c.3106G&gt;C, p.Val1036Leu) who developed ovarian cancer. Tumour somatic analysis revealed a 24.7% loss of heterozygosity, commonly associated with homologous recombination deficiency. No other pathogenic DNA damage repair gene mutations were identified, although <jats:italic>ATR<\/jats:italic> amplification was observed. The proband has four siblings, all of whom tested positive for the <jats:italic>PALB2<\/jats:italic> c.3106G&gt;C variant. Both of her brothers were diagnosed with prostate cancer. One of her sisters was diagnosed with breast cancer at age 62, while the other sister has no cancer history. The patient\u2019s two children have not been tested and have no reported history of cancer. Her father had prostate cancer at age 67 and died due to melanoma at age 75. No history of cancer was found on her mother\u2019s side. Segregation analysis of the <jats:italic>PALB2<\/jats:italic> c.3106G&gt;C variant with multiple cancer diagnoses suggests a pathogenic role.<\/jats:p>","DOI":"10.1136\/bcr-2025-266362","type":"journal-article","created":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T06:20:17Z","timestamp":1754029217000},"page":"e266362","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["PALB2 c.3106G&gt;C (p.Val1036Leu) in a familial cancer setting suggesting potential pathogenicity"],"prefix":"10.1136","volume":"18","clinical-trial-number":[{"clinical-trial-number":"nct06253130","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct06220864","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04905914","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct05240898","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct05691491","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct06463340","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9681-0515","authenticated-orcid":false,"given":"Philippos Apolinario","family":"Costa","sequence":"first","affiliation":[{"name":"Medical Oncology and Hematology, Yale School of Medicine, New Haven, Connecticut, 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