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Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.

Breast cancer research and treatment - 1 Aug 2021

Laish Ido, Friedman Eitan, Levi-Reznick Gili, Kedar Inbal, Katz Lior, Levi Zohar, Halpern Naama, Parnasa Shani, Abu-Shatya Aasem, Half Elizabeth, Goldberg Yael

Abstract excerpt

BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS), the most common inherited cancer syndromes, are attributed to a single heterozygous pathogenic variant (PV) in BRCA1/2 or in a DNA MMR gene, respectively. Little is known about the phenotype in double heterozygotes who carry PVs in both genes. METHODS: Carriers of double-PVs in any DNA MMR gene and BRCA1/2 attending one of...

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PMID: 34086170
DOI: 10.1007/s10549-021-06258-9

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