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Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience
Triple-negative breast cancer is a heterogeneous molecular subtype of BC. Pathological complete response (pCR) is an impor...
Are population level familial risks and germline genetics meeting each other?
Are population level familial risks and germline genetics meeting each other?
Large amounts of germline sequencing data have recently become available and we sought to compare these results with popul...
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer
The current understanding of the inherited risk of colorectal cancer (CRC) started with an observational clinical era in t...
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code
A brief description of why and for which purposes the Prospective Lynch Syndrome Database was established, the principles ...
Modifier genes and Lynch syndrome: some considerations
Modifier genes and Lynch syndrome: some considerations
Lynch Syndrome (LS) is a highly variable entity with some patients presenting at very young ages with malignancy whereas o...
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer
Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. The vast majority of these var...
Unravelling genetic variants of a swedish family with high risk of prostate cancer
Unravelling genetic variants of a swedish family with high risk of prostate cancer
Prostate cancer is the most prevalent cancer in men worldwide. It is a polygenic disease with a substantial proportion of ...
Current status of inherited pancreatic cancer
Current status of inherited pancreatic cancer
It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition...
Beyond the pill: contraception and the prevention of hereditary ovarian cancer
Beyond the pill: contraception and the prevention of hereditary ovarian cancer
BRCA1 and BRCA2 mutation carriers face an elevated lifetime risk of developing ovarian cancer. Oral contraceptives have be...
Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–2018
Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–2018
Early identification of hereditary cancer risk would save lives, but genetic testing (GT) has been inadequate. We assessed...
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system
Lynch syndrome (LS) is associated with an increased risk of colorectal (CRC) and endometrial (EC) cancers. Universal tumor...
CMMRD caused by PMS1 mutation in a sudanese consanguineous family
CMMRD caused by PMS1 mutation in a sudanese consanguineous family
A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing o...
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation
Women with a pathogenic germline mutation in the BRCA1 gene face a very high lifetime risk of developing breast cancer, es...
Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland
Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland
The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevale...