Consanguinity and inbreeding in health and disease in North African populations

L Romdhane, N Mezzi, Y Hamdi… - Annual review of …, 2019 - annualreviews.org
North Africa is defined as the geographical region separated from the rest of the continent by
the Sahara and from Europe by the Mediterranean Sea. The main demographic features of …

Germline genetic testing for breast cancer risk: the past, present, and future

S Yadav, FJ Couch - … Society of Clinical Oncology Educational Book, 2019 - ascopubs.org
The field of germline genetic testing for breast cancer (BC) risk has evolved substantially in
the last decade. The introduction of multigene panel testing (MGPT) led to an urgent need to …

Association of a polygenic risk score with breast cancer among women carriers of high-and moderate-risk breast cancer genes

S Gallagher, E Hughes, S Wagner, P Tshiaba… - JAMA network …, 2020 - jamanetwork.com
Importance To date, few studies have examined the extent to which polygenic single-
nucleotide variation (SNV)(formerly single-nucleotide polymorphism) scores modify risk for …

[HTML][HTML] Risk of breast cancer among carriers of pathogenic variants in breast cancer predisposition genes varies by polygenic risk score

C Gao, EC Polley, SN Hart, H Huang, C Hu… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
PURPOSE This study assessed the joint association of pathogenic variants (PVs) in breast
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …

A framework for transcriptome-wide association studies in breast cancer in diverse study populations

A Bhattacharya, M García-Closas, AF Olshan… - Genome biology, 2020 - Springer
Background The relationship between germline genetic variation and breast cancer survival
is largely unknown, especially in understudied minority populations who often have poorer …

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

B Adedokun, Z Du, G Gao, TU Ahearn… - Nature …, 2021 - nature.com
Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first
identify variants that are associated with breast cancer at P< 0.05 from African ancestry …

Matrix metalloproteinase gene polymorphisms are associated with breast cancer in the caucasian women of Russia

N Pavlova, S Demin, M Churnosov… - International Journal of …, 2022 - mdpi.com
We conducted this study to explore the association between matrix metalloproteinase (MMP)
gene polymorphisms and breast cancer (BC) risk in the Caucasian women of Russia. In …

A polygenic risk score for breast cancer in US Latinas and Latin American women

Y Shieh, L Fejerman, PC Lott, K Marker… - JNCI: Journal of the …, 2020 - academic.oup.com
Background More than 180 single nucleotide polymorphisms (SNPs) associated with breast
cancer susceptibility have been identified; these SNPs can be combined into polygenic risk …

Ancestry-specific predisposing germline variants in cancer

N Oak, AD Cherniack, RJ Mashl, FR Hirsch, L Ding… - Genome medicine, 2020 - Springer
Background Distinct prevalence of inherited genetic predisposition may partially explain the
difference of cancer risks across ancestries. Ancestry-specific analyses of germline …

Update on breast density, risk estimation, and supplemental screening

SV Destounis, A Santacroce… - American Journal of …, 2020 - Am Roentgen Ray Soc
OBJECTIVE. Dense breast tissue is an established risk factor for the development of breast
cancer. Methods for reliable and reproducible identification of breast density have been …