Results 131 to 140 of about 116,502 (262)

A <i>NHEJ1</i> mutator allele influencing germline mutation rates sex-specifically in humans. [PDF]

Sci Adv
Wu K, Nan J, Liu H.
europepmc   +1 more source

Familial Cancers Associated With Cancers of the Breast, Prostate, Colorectum, and Lung in Sweden

International Journal of Cancer, EarlyView.
ABSTRACT Available epidemiological evidence shows that many cancers share familial risks, and this is increasingly confirmed by data on shared pathogenic germline gene variants between cancers. We decided to harness the world's largest resource on familial cancer to assess discordant familial risks for female breast (BC), prostate (PC), colorectal (CRC)
Frantisek Zitricky, Kristina Sundquist, Jan Sundquist, Akseli Hemminki, Asta Försti, Kari Hemminki   +5 more
wiley   +1 more source

Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report. [PDF]

Clin Case Rep
Qi Y, Wang S, Sun Z, Du J, Li J.
europepmc   +1 more source

MLH1 p.His112Arg Variant Is Associated With Increased Cancer Susceptibility

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome, a prevalent hereditary cancer predisposition, is frequently caused by pathogenic variants in the MutL homolog 1 (MLH1) mismatch repair gene. However, a significant proportion of MLH1 missense variants remain classified as variants of uncertain significance (VUS), creating clinical ambiguity.
Amal Elfatih, Issam Tout, Najwa Ahmad Doha, Tala Abu Arja, Idris Mohammed, Doua Abdelrhaman, Waseem Hasan, Chadi Saad, Hamdi Mbarek, Borbala Mifsud, Sahar Isa Da'as   +10 more
wiley   +1 more source

Autoimmune myocarditis associated with subcutaneous panniculitis-like T-cell lymphoma without HAVCR2 germline mutation. [PDF]

Eur Heart J Case Rep
Katano R, Shiratori S, Tsuneta S, Tada A.   +3 more
europepmc   +1 more source

Is Ductal Carcinoma In Situ a Precursor or Low‐Risk Variant of Invasive Breast Cancer? A Population Perspective

International Journal of Cancer, EarlyView.
ABSTRACT Ductal carcinoma in situ (DCIS) is usually detected with mammography screening and assumed to be a precursor of invasive ductal cancer (IDC) of the breast. Yet, despite an approximately 10‐fold increase in the rate of DCIS detection and treatment within 20 years following implementation of mammography screening in the United States, IDC ...
Ismail Jatoi, Adalberto M. Filho, Gretchen Gierach, Hyuna Sung, Philip S. Rosenberg   +4 more
wiley   +1 more source

Sequence context and methylation interact to shape germline mutation rate variation at CpG sites. [PDF]

PLoS Genet
Chandra S, Gao Z.
europepmc   +1 more source

Occult serous tubal intraepithelial carcinoma and high‐grade serous carcinoma at risk‐reducing salpingo‐oophorectomy in BRCA1/2 carriers: A Czech two‐center cohort

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Background Risk‐reducing salpingo‐oophorectomy is the standard intervention for prevention of tubo‐ovarian carcinoma in women with pathogenic BRCA1/2 variants, yet the optimal timing remains clinically challenging, particularly for BRCA2 carriers.
Olga Zikan Dubova, Lukas Dostalek, Michal Emingr, Munachiso Ndukwe, Michal Zikan   +4 more
wiley   +1 more source

A patient with myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS/MPN-N) harboring a <i>DDX41</i> germline mutation: a case report. [PDF]

Front Oncol
Chen X, Feng C, Zhou J, Chen X.
europepmc   +1 more source

Fertility counseling and preservation considerations in patients with gynecologic and non‐gynecologic BRCA and Lynch‐associated malignancies

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Lynch syndrome and BRCA‐mutation associated malignancies are fortunately rare. Affected patients have an increased risk of cancer diagnosis at a young age, often significantly overlapping with their reproductive years. In helping these patients, oncologists must navigate the following areas of care: cancer prevention, impact of cancer ...
Anna Weimer, Nadeem Abu‐Rustum, David Mutch, Mauricio Cuello, Angélica Fletcher, Hextan Y. S. Ngan, Nozomu Yanaihara, Rene Pareja, Christina Fotopoulou, Kenneth Ruzindana, Ka Yu Tse, Yana Zou, Neerja Bhatla, Ting‐Chang Chang, Munanchiso Ndukwe Iheme Jr, Jalid Sehouli, Nicole Conchin, Eva Chalas, Sarikapan Wilailak, Barbara Schmalfeldt, Alexander B. Olawaiye   +20 more
wiley   +1 more source