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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...
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland
Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we...
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor
There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate ...
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene lo...
Genetic susceptibility to hereditary non-medullary thyroid cancer
Genetic susceptibility to hereditary non-medullary thyroid cancer
Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in re...
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform
Breast cancer risk stratification categorizes a woman’s potential risk of developing the disease as near-population,...