Familial cancer

01 15 October 2026

DOI 10.1007/s10689-026-00609-5

Moderate-risk variants in hereditary breast and ovarian cancer: seven-year experience from a specialized center

Open DOI

Annika Krückel, Matthias W. Beckmann, Lena Brückner et al.

Moderate-risk gene variants represent an increasingly recognized component of hereditary breast and ovarian cancer (HBOC) predisposition, yet their clinical interpretation and management remain less standardized than those of high-penetr...

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02 15 October 2026

DOI 10.1007/s10689-026-00611-x

Histopathological and immunohistochemical analyses do not indicate timing of prophylactic hysterectomy: a retrospective analysis of endometrial biopsies in Lynch syndrome carriers

Open DOI

Lotte van Leeuwen, Ellis L. Eikenboom, Floris H. Groenendijk et al.

Women with Lynch syndrome are at increased risk of endometrial cancer. Gynecological surveillance is advised, but also prophylactic hysterectomy is an option. This study aimed to gain more insight in tumorigenesis in Lynch carriers to be...

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03 8 October 2026

DOI 10.1007/s10689-026-00610-y

Impact of mainstream genetic testing for breast cancer patients: five-year data from the Parkville Familial Cancer Centre

Open DOI

Catherine Beard, Anita Skandarajah, Geoffrey J. Lindeman et al.

04 7 October 2026

DOI 10.1007/s10689-026-00607-7

Pan-cancer prevalence of microsatellite instability and Lynch syndrome in India

Open DOI

Harsh Sheth, Jyoti Sadhwani, Bhawna Sirohi et al.

05 27 September 2026

DOI 10.1007/s10689-026-00602-y

A frequently occurring MSH2 variant in Iraqi and Chaldean patients with Lynch syndrome: evidence for a putative founder variant

Open DOI

Mikaela Bradley, Tara Rangarajan, Dana Zakalik

06 19 September 2026

DOI 10.1007/s10689-026-00603-x

A systematic review of cancer risks associated with MITF variants

Open DOI

Luigi Monti, Lea Godino, Clio Dessinioti et al.

The MITF E318K variant has been associated with melanoma risk, while risk associated with other variants or of other cancers remains uncertain. We performed a systematic review with meta-analysis of 11 retrospective case-control studies ...

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07 17 September 2026

DOI 10.1007/s10689-026-00606-8

Risk of desmoid tumor based on APC pathogenic variant location and surgical history in familial adenomatous polyposis: a U.S. community cohort study

Open DOI

Prakash I. Thomas, Holly E. Carwana, Sheng-Fang Jiang et al.

08 17 September 2026

DOI 10.1007/s10689-026-00600-0

An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort

Open DOI

Leah Zaretsky, Marcy E. Richardson, Taylor Coleman et al.

Numerous studies have demonstrated that Ashkenazi Jewish individuals heterozygous for APC c.3902T > A; p.Ile1307Lys have 1.7-fold increased odds of colorectal adenocarcinoma (CRC). The cancer risk for homozygotes is unknown, and publishe...

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09 17 September 2026

DOI 10.1007/s10689-026-00604-w

The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study

Open DOI

Einat Ritter, Aasem Abu Shtaya, Revital Kariv et al.

PTEN Hamartoma Tumor Syndrome (PHTS) is a rare condition characterized by a complex phenotype including gastrointestinal hamartomas and increased lifetime malignancy risk. To characterize the clinical phenotype, genetic landscape, and sp...

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10 10 September 2026

DOI 10.1007/s10689-026-00605-9

Current status of knowledge, diagnosis and management of hereditary colorectal cancer among physicians in China: a national questionnaire survey of 81 doctors from different hospitals

Open DOI

Baoshuai Liu, Juan Li, Guorong Wang et al.

Hereditary colorectal cancer (HCRC), including Lynch syndrome (LS) and familial adenomatous polyposis (FAP), accounts for 5–10% of colorectal cancers (CRC); however, little is known about physicians’ awareness and management of these con...

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