BRCA1 and BRCA2 testing: weighing the demand against the benefits

Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.

Clinical genetics·2016

Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy.

British journal of cancer·2014

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.

British journal of cancer·2014

The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

Clinical genetics·2013

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

British journal of cancer·2012

Rare mutations in XRCC2 increase the risk of breast cancer.

American journal of human genetics·2012

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

American journal of human genetics·2026

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Multi-omics dissection of FOXA1 reveals cancer-type-specific transcriptional networks and functional risk variants.

iScience·2026

The research progress of the synergistic effect of Epstein-Barr virus and Helicobacter pylori infection in the occurrence and development of gastric cancer.

Frontiers in oncology·2026

Global, regional, and national analysis of CNS cancers burden from 1990 to 2021 and forecast of disease trend over the next 25 years.

Medicine·2026

Ionizing Radiation and Ultraviolet Light Irradiation-Associated DNA Damage Increasing Genomic Instability Risk.

Cancer science·2026

Spatial analysis of head and neck cancer identifies two ecosystems with distinct modes of epithelial-to-mesenchymal transition.

Nature genetics·2026

Derivation of clinical subphenotypes of candidemia and their association with mortality: a nationwide multicentre retrospective cohort study.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2026

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BRCA1 and BRCA2 testing: weighing the demand against the benefits

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Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.

Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy.

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.

The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Rare mutations in XRCC2 increase the risk of breast cancer.

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Multi-omics dissection of FOXA1 reveals cancer-type-specific transcriptional networks and functional risk variants.

The research progress of the synergistic effect of Epstein-Barr virus and Helicobacter pylori infection in the occurrence and development of gastric cancer.

Global, regional, and national analysis of CNS cancers burden from 1990 to 2021 and forecast of disease trend over the next 25 years.

Ionizing Radiation and Ultraviolet Light Irradiation-Associated DNA Damage Increasing Genomic Instability Risk.

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BRCA1 and BRCA2 testing: weighing the demand against the benefits

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