Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Jeffrey N WeitzelSusan L NeuhausenAaron AdamsonShu TaoCharité RickerAsaf MaozMargalit RosenblattBita NehoraySharon SandLinda SteeleGary UnzeitigNancy FeldmanAmie M BlancoDonglei HuScott HuntsmanDanielle CastilloChristopher HaimanThomas SlavinElad ZivPublished in: Cancer (2019)
Of 1054 BRCA-negative, high-risk Hispanic women, 4.5% carried a PV in a cancer susceptibility gene, increasing understanding of hereditary BC in this population. Recurrent PVs in PALB2 and CHEK2 represented 47% (23 of 49) of the total, suggesting a founder effect. Accurate classification of variants was enabled by carefully controlling for ancestry and the increased identification of at-risk Hispanics for screening and prevention.
Keyphrases
- breast cancer risk
- copy number
- genome wide
- genome wide identification
- papillary thyroid
- machine learning
- deep learning
- polycystic ovary syndrome
- high resolution
- childhood cancer
- squamous cell
- type diabetes
- african american
- gene expression
- pregnant women
- adipose tissue
- mass spectrometry
- transcription factor
- young adults
- lymph node metastasis