The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

World Health Organization (WHO) defines natural menopause as at least 12 consecutive
months of amenorrhea not due to physiologic and pathologic causes. Statistics show that the …

Purpose The prevalence of homologous recombination DNA damage repair (HR-DDR)
deficiencies among all tumor lineages is not well characterized. Therapy directed toward …

Purpose Testing for germline mutations in BRCA1/2 is standard for select patients with
breast cancer to guide clinical management. Next-generation sequencing (NGS) allows …

Background Reliable estimates of cancer risk are critical for guiding management of BRCA1
and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates for …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Background There is considerable variability in COVID-19 outcomes among younger adults,
and some of this variation may be due to genetic predisposition. Methods We combined …

Background In healthy BRCA1/2 mutation carriers, bilateral risk-reducing mastectomy
(BRRM) strongly reduces the risk of developing breast cancer (BC); however, no clear …

BRCA1-and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is
characterized by an increased risk for female and male breast cancer, ovarian cancer …

Purpose: To systematically investigate the effectiveness of prophylactic surgeries (PS)
implemented in women carrying BRCA1/2 mutations. Experimental Design: The PubMed …