Cancer genetics

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Cancer genetics

Week of 30 June 2026

12 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA1/2 — the HRD genomic instability score becomes ACMG/AMP evidence for variant classification (ENIGMA project, 4,943 tumors).
►BRCA1/2 — SUBITO: standard chemotherapy followed by olaparib equals intensified chemotherapy with stem cell rescue in stage III HRD breast cancer, without the toxicity.
►BRCA1 — 18.6% pathogenic variants in women with breast cancer ≤40 years: an argument for systematic testing.
►Fanconi anemia — noninvasive oral brush biopsies reveal a premalignant cancerization field (TP53, CNVs) for surveillance.
►DICER1 — a pathogenic Alu insertion unmasked by long-read sequencing in a short-read-negative case.

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Autosomal dominantPubMed

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity

Hereditary ovarian cancer — *BRCA1/2* variant classification

VUS reclassifiedPenetrance update

Am J Hum Genet 2026· JunRead

Autosomal dominantPubMed

Targeting homologous recombination deficiency with intensified chemotherapy versus standard chemotherapy followed by olaparib in stage III breast cancer (SUBITO): an open-label, randomised, controlled, phase 3 trial

Stage III HER2-negative breast cancer with HRD / germline *BRCA1/2* mutation

Breast cancerPARP inhibitorNew recommendation

Lancet Oncol 2026· JulRead

Autosomal dominantPubMed

Choline metabolism drives metastasis in BRCA1-deficient ovarian cancers by activating FAM3C

*BRCA1*-deficient ovarian cancer — metastasis

Nat Commun 2026· JunRead

Récessif (FANC) / lié à l'X (*FANCB*)PubMed

Fanconi Anemia as a Window into Premalignant Field Cancerization of the Oral Mucosa

Fanconi anemia — premalignant field cancerization of the oral mucosa

Penetrance update

medRxiv 2026· JunRead

Autosomal dominantPubMed

The Clinical Application of Refined Risk Estimates (caRe) Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial

*BRCA1/2* carriers — risk communication and management decision-making

Penetrance update

Cancer Prev Res (Phila) 2026· JunRead

Autosomal dominantPubMed

BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications

Hereditary breast and ovarian cancer — *BRCA1* founder variant in the Spanish Roma population

Breast cancerRecurrent variant

Eur J Hum Genet 2026· JunRead

Autosomal dominantPubMed

Frequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer

Breast cancer in young women (≤40 years) — germline predisposition

Breast cancerMainstreamingPenetrance update

Br J Cancer 2026· JunRead

Autosomal dominantPubMed

Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer

Hereditary breast and ovarian cancer — double heterozygosity

Penetrance updateMainstreaming

Eur J Cancer 2026· JunRead

Performance of family history-based colorectal cancer screening criteria by race and age at diagnosis in the Disparities and Cancer Epidemiology (DANCE) study

Early-onset colorectal cancer — family history-based screening criteria

Lynch syndromeMainstreaming

medRxiv 2026· JunRead

Autosomal dominantPubMed

Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers

Breast cancer penetrance modifiers in *BRCA1* 185delAG carriers

Breast cancerPenetrance update

J Med Genet 2026· JunRead

Autosomal dominantPubMed

Long-Term Outcomes in Patients With Recurrent Ovarian Cancer and Exceptional Response to PARP Inhibitors

Recurrent ovarian cancer — exceptional response to PARP inhibitors

Breast cancerPARP inhibitorPenetrance update

JAMA Oncol 2026· JunRead

Autosomal dominantPubMed

The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition

*DICER1*-related tumour predisposition

J Med Genet 2026· JunRead

References and sources

BRCA1 — Hereditary ovarian cancer — *BRCA1/2* variant classification. Am J Hum Genet 2026. PMID 42335889. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42335889/
BRCA1 — Stage III HER2-negative breast cancer with HRD / germline *BRCA1/2* mutation. Lancet Oncol 2026. PMID 42372741. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42372741/
BRCA1 — *BRCA1*-deficient ovarian cancer — metastasis. Nat Commun 2026. PMID 42323326. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42323326/
FANCB — Fanconi anemia — premalignant field cancerization of the oral mucosa. medRxiv 2026. PMID 42369459. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42369459/
BRCA1 — *BRCA1/2* carriers — risk communication and management decision-making. Cancer Prev Res (Phila) 2026. PMID 42339534. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42339534/
BRCA1 — Hereditary breast and ovarian cancer — *BRCA1* founder variant in the Spanish Roma population. Eur J Hum Genet 2026. PMID 42337332. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42337332/
BRCA1 — Breast cancer in young women (≤40 years) — germline predisposition. Br J Cancer 2026. PMID 42337046. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42337046/
BRCA1 — Hereditary breast and ovarian cancer — double heterozygosity. Eur J Cancer 2026. PMID 42341617. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42341617/
Early-onset colorectal cancer — family history-based screening criteria. medRxiv 2026. PMID 42369479. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42369479/
BRCA1 — Recurrent ovarian cancer — exceptional response to PARP inhibitors. JAMA Oncol 2026. PMID 42348196. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42348196/
DICER1 — *DICER1*-related tumour predisposition. J Med Genet 2026. PMID 41916722. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/41916722/
BRCA1 — Breast cancer penetrance modifiers in *BRCA1* 185delAG carriers. J Med Genet 2026. PMID 41916723. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41916723/