Breast cancer genetics in young women: What do we know?

L Gómez-Flores-Ramos, RM Álvarez-Gómez… - … Research/Reviews in …, 2017 - Elsevier
Breast cancer (BC) in young women, generally defined in oncology as women who are 40
years of age or younger, represents 2 out of 10 BC cases in developing countries. Several …

Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes

M Terradas, G Capellá, L Valle - Journal of Clinical Medicine, 2020 - mdpi.com
In the past two decades, multiple studies have been undertaken to elucidate the genetic
cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal …

[HTML][HTML] Germline copy number variations are associated with breast cancer risk and prognosis

M Kumaran, CE Cass, K Graham, JR Mackey… - Scientific reports, 2017 - nature.com
Breast cancer is one of the most common cancers among women, and susceptibility is
explained by genetic, lifestyle and environmental components. Copy Number Variants …

Copy number variants are ovarian cancer risk alleles at known and novel risk loci

AA DeVries, J Dennis, JP Tyrer, PC Peng… - JNCI: Journal of the …, 2022 - academic.oup.com
Background Known risk alleles for epithelial ovarian cancer (EOC) account for
approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been …

[HTML][HTML] Copy number variation in triple negative breast cancer samples associated with lymph node metastasis

M Pariyar, A Johns, RF Thorne, RJ Scott… - Neoplasia, 2021 - Elsevier
Triple negative breast cancer (TNBC) is a highly metastatic and aggressive subtype of
breast cancer and cases presenting with lymph node involvement have worse outcomes …

Copy number variation of circulating tumor DNA (ctDNA) detected using NIPT in neoadjuvant chemotherapy-treated ovarian cancer patients

M Sharbatoghli, F Fattahi, H Aboulkheyr Es… - Frontiers in …, 2022 - frontiersin.org
Analysis of circulating tumor DNA (ctDNA) can be used to characterize and monitor cancers.
Recently, non-invasive prenatal testing (NIPT) as a new next-generation sequencing (NGS) …

Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia

M Boujemaa, Y Hamdi, N Mejri, L Romdhane… - PloS One, 2021 - journals.plos.org
Hereditary breast cancer accounts for 5–10% of all breast cancer cases. So far, known
genetic risk factors account for only 50% of the breast cancer genetic component and almost …

[PDF][PDF] 年轻乳腺癌的分子生物学发病机制

赵翠翠, 刘红 - 肿瘤防治研究, 2020 - zlfzyj.com
摘要乳腺癌在年轻女性中相对少见, 但在致使年轻女性死亡的肿瘤中乳腺癌高居首位. 此外,
年轻女性乳腺癌患者在病因和生物学上与老年女性患者均存在明显差异. 年轻乳腺癌的发病机制 …

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

C Hakkaart, JF Pearson, L Marquart, J Dennis… - Communications …, 2022 - nature.com
The contribution of germline copy number variants (CNVs) to risk of developing cancer in
individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We …

[HTML][HTML] Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma

SH Han, SY Camp, H Chu, R Collins, R Gillani… - European Urology Open …, 2024 - Elsevier
Background and objective Previous germline studies on renal cell carcinoma (RCC) have
usually pooled clear and non–clear cell RCCs and have not adequately accounted for …